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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=39",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=37",
"results": [
{
"created": "2026-02-07T10:52:44.880850+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.134",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MFN2 were set to 15064763; 15549395; 16437557; 20008656\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:51:54.594029+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LRSAM1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:51:54.456045+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRSAM1 was added\ngene: LRSAM1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LRSAM1 were set to 20865121; 22012984; 22781092; 27686364; 33568173; 33414056; 30996334\nPhenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753; HMSN",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:50:58.110509+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.132",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene WARS from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:50:57.935370+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WARS was added\ngene: WARS was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Royal Melbourne Hospital\nMode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WARS were set to 28369220; 31321409; 31069783\nPhenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, MIM#617721",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:49:47.817759+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.131",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene UBA5 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:49:47.672016+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UBA5 was added\ngene: UBA5 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBA5 were set to 32179706; 26872069\nPhenotypes for gene: UBA5 were set to Hypomyelinating neuropathy",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:49:00.139235+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: RBM7: Changed rating: RED",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:48:48.096289+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RBM7 as Red List (low evidence)",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:48:48.088557+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbm7 has been classified as Red List (Low Evidence).",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:48:25.372760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: RBM7: Changed rating: RED",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:48:06.215960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RBM7 as Red List (low evidence)",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:48:06.208839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbm7 has been classified as Red List (Low Evidence).",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:47:23.631790+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.129",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RBM7 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:47:23.495273+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBM7 was added\ngene: RBM7 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBM7 were set to 27193168\nPhenotypes for gene: RBM7 were set to SMA-like spinal motor neuropathy; dHMN/dSMA",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:46:40.730138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PMP2 as Green List (high evidence)",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:46:40.722822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pmp2 has been classified as Green List (High Evidence).",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:46:13.287627+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PMP2 as Green List (high evidence)",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:46:13.279872+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pmp2 has been classified as Green List (High Evidence).",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:45:44.949283+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.127",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PMP2 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:45:44.803413+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMP2 was added\ngene: PMP2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMP2 were set to 26257172; 26828946; 27009151\nPhenotypes for gene: PMP2 were set to HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279\nMode of pathogenicity for gene: PMP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:43:00.819370+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.126",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PCK2 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:43:00.649357+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PCK2 was added\ngene: PCK2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCK2 were set to 36845668\nPhenotypes for gene: PCK2 were set to Peripheral neuropathy (MONDO#0005244), PCK2-related",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:42:13.152847+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NAGLU from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:42:13.014182+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NAGLU was added\ngene: NAGLU was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Amber,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; HSAN/SFN",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:41:36.563252+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MYO9B from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:41:36.420545+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYO9B was added\ngene: MYO9B was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO9B were set to PMID: 36260368; 40382695\nPhenotypes for gene: MYO9B were set to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related",
"entity_name": "MYO9B",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:40:55.129254+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LMNA from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:40:54.968082+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMNA were set to 11799477; 28902413\nPhenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:38:07.289274+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LITAF from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:38:07.147602+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LITAF was added\ngene: LITAF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LITAF were set to 12525712; 19541485; 23359569; 32665875; 28211240\nPhenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:37:04.979015+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.121",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied Region ISCA-37436-Loss from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:37:04.820724+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Region: ISCA-37436-Loss was added\nRegion: ISCA-37436-Loss was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37436-Loss.\nMode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093\nPhenotypes for Region: ISCA-37436-Loss were set to Neuropathy, recurrent, with pressure palsies, MIM# 162500",
"entity_name": "ISCA-37436-Loss",
"entity_type": "region"
},
{
"created": "2026-02-07T10:36:31.085903+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.120",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied Region ISCA-37436-Gain from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:36:30.947328+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Region: ISCA-37436-Gain was added\nRegion: ISCA-37436-Gain was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37436-Gain were set to PMID: 32648354\nPhenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A, MIM#118220",
"entity_name": "ISCA-37436-Gain",
"entity_type": "region"
},
{
"created": "2026-02-07T10:36:00.574600+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.119",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:36:00.419739+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: VWA1_HMNMYO_GCGCGGAGCG was added\nSTR: VWA1_HMNMYO_GCGCGGAGCG was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature\npaediatric-onset tags were added to STR: VWA1_HMNMYO_GCGCGGAGCG.\nMode of inheritance for STR: VWA1_HMNMYO_GCGCGGAGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: VWA1_HMNMYO_GCGCGGAGCG were set to 33559681; 33459760\nPhenotypes for STR: VWA1_HMNMYO_GCGCGGAGCG were set to Neuropathy, hereditary motor, with myopathic features\tMIM#619216",
"entity_name": "VWA1_HMNMYO_GCGCGGAGCG",
"entity_type": "str"
},
{
"created": "2026-02-07T10:35:28.153478+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.118",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PRDM12_HSAN8_GCC from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:35:27.990414+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PRDM12_HSAN8_GCC was added\nSTR: PRDM12_HSAN8_GCC was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature\npaediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.\nMode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: PRDM12_HSAN8_GCC were set to 26005867\nPhenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488",
"entity_name": "PRDM12_HSAN8_GCC",
"entity_type": "str"
},
{
"created": "2026-02-07T10:34:28.071724+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.117",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TRPA1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:34:27.923277+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPA1 was added\ngene: TRPA1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRPA1 were set to 20547126\nPhenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1; HSAN/SFN",
"entity_name": "TRPA1",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:34:10.905186+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SH3BP4 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:34:10.754520+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SH3BP4 was added\ngene: SH3BP4 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: SH3BP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SH3BP4 were set to 24627108\nPhenotypes for gene: SH3BP4 were set to HMSN",
"entity_name": "SH3BP4",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:33:26.777499+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NRG1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:33:26.607303+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRG1 was added\ngene: NRG1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert list\nMode of inheritance for gene: NRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRG1 were set to 35485770\nPhenotypes for gene: NRG1 were set to Peripheral neuropathy MONDO:0005244",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:32:51.505530+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NAMPT from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:32:51.343293+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NAMPT was added\ngene: NAMPT was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NAMPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAMPT were set to 41004591\nPhenotypes for gene: NAMPT were set to hereditary motor and sensory neuropathy MONDO:0015358",
"entity_name": "NAMPT",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:32:37.055679+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MED25 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:32:36.873034+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MED25 was added\ngene: MED25 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert list,Victorian Clinical Genetics Services\ndisputed tags were added to gene: MED25.\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED25 were set to 19290556; 30039206\nPhenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease, type 2B2\tMIM#605589",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:32:17.466601+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.113",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MARS from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:32:17.319801+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MARS was added\ngene: MARS was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARS were set to 23729695; 24354524; 29655802\nPhenotypes for gene: MARS were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:31:35.592220+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.112",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LAS1L from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:31:33.062874+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAS1L was added\ngene: LAS1L was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert Review\nMode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: LAS1L were set to 24647030\nPhenotypes for gene: LAS1L were set to congenital lethal motor neuron disease",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:30:53.969231+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KLHL13 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:30:53.828401+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLHL13 was added\ngene: KLHL13 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KLHL13 were set to 24627108\nPhenotypes for gene: KLHL13 were set to HMSN",
"entity_name": "KLHL13",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:30:24.782160+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KIF5A from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:30:24.081677+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 30057544; 29892902; 28902413; 26403765; 25695920; 25008398\nPhenotypes for gene: KIF5A were set to Hereditary Neuropathies; HMSN",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:29:37.890994+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KIF1B from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:29:37.744492+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF1B was added\ngene: KIF1B was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF1B were set to 11389829; 30126838; 25802885\nPhenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210; HMSN",
"entity_name": "KIF1B",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:28:47.904160+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene IQGAP3 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:28:47.737461+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IQGAP3 was added\ngene: IQGAP3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: IQGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IQGAP3 were set to 32341455\nPhenotypes for gene: IQGAP3 were set to Hereditary neuropathy",
"entity_name": "IQGAP3",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:28:09.284314+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KIF1A from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:28:09.140247+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1A were set to 21820098; 28708278\nPhenotypes for gene: KIF1A were set to HSAN/SFN; Neuropathy, hereditary sensory, type IIC, 614213",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:27:45.402236+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene JAG1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:27:45.246255+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to 32065591; 25707699\nPhenotypes for gene: JAG1 were set to Peripheral neuropathy",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:26:55.658513+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ITPR3 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:26:55.521746+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITPR3 was added\ngene: ITPR3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITPR3 were set to 32949214; 24627108; 36302985; 39270020; 39560673\nPhenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254\nMode of pathogenicity for gene: ITPR3 was set to Other",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:26:28.865323+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene INF2 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:26:28.726361+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: INF2 was added\ngene: INF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: INF2 were set to 22187985; 30680856; 25943269\nPhenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN",
"entity_name": "INF2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:25:57.944043+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene IGHMBP2 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:25:57.804408+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGHMBP2 were set to 25439726\nPhenotypes for gene: IGHMBP2 were set to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:25:32.567349+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HSPB8 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:25:31.621312+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSPB8 was added\ngene: HSPB8 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HSPB8 were set to 15122253; 15565283; 29029362; 28780615; 28144995; 26718575\nPhenotypes for gene: HSPB8 were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:25:13.076803+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HSPB3 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:25:12.935209+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSPB3 was added\ngene: HSPB3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HSPB3 were set to 20142617; 27549087\nPhenotypes for gene: HSPB3 were set to HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376",
"entity_name": "HSPB3",
"entity_type": "gene"
},
{
"created": "2026-02-07T10:24:30.833834+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HSPB1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T10:24:30.583900+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSPB1 was added\ngene: HSPB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HSPB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HSPB1 were set to 21785432; 15122254; 18832141; 32639100; 32334137; 33943041; 35328016\nPhenotypes for gene: HSPB1 were set to Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:38:54.266225+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.99",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HK1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:38:54.127575+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\n5'UTR, founder tags were added to gene: HK1.\nMode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HK1 were set to 19536174; 26822750\nPhenotypes for gene: HK1 were set to HMSN; Neuropathy, hereditary motor and sensory, Russe type, 605285",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:38:28.396562+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HINT1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:38:28.243516+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HINT1 was added\ngene: HINT1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HINT1 were set to 22961002; 33663550; 33404983; 31848916\nPhenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646; HMSN, dHMN/dSMA",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:38:02.732166+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.97",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HARS from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:38:02.558188+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.97",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS was added\ngene: HARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nnew gene name tags were added to gene: HARS.\nMode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HARS were set to 26072516\nPhenotypes for gene: HARS were set to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; MONDO:0014711; HMSN",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:37:15.960430+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GNB4 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:37:15.817256+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNB4 was added\ngene: GNB4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB4 were set to 23434117; 28642160; 27908631\nPhenotypes for gene: GNB4 were set to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN",
"entity_name": "GNB4",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:36:36.879819+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.95",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GJB1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:36:36.743741+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.95",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJB1 was added\ngene: GJB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GJB1 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: GJB1 were set to 8266101; 17100997; 17353473\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; HMSN",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:36:17.388947+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GDAP1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:36:17.209234+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GDAP1 was added\ngene: GDAP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:35:38.083520+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.93",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GBF1 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:35:37.941459+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GBF1 was added\ngene: GBF1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GBF1 were set to 32937143\nPhenotypes for gene: GBF1 were set to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy",
"entity_name": "GBF1",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:35:03.869237+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GARS from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:35:03.727546+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GARS was added\ngene: GARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nnew gene name tags were added to gene: GARS.\nMode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GARS were set to 17101916; 22462675; 31985473; 32181591; 12690580; 25168514; 26503042; 29648643; 16982418\nPhenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, infantile, James type, MIM# 619042; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472",
"entity_name": "GARS",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:34:27.378140+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.91",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FIG4 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:34:27.244803+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FIG4 was added\ngene: FIG4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FIG4 were set to 17572665; 21705420; 24878229\nPhenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640; HMSN",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:34:02.831884+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FICD from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:34:02.668658+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FICD was added\ngene: FICD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FICD were set to 36136088\nPhenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, MIM# 620911",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:33:43.177649+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.89",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FGD4 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T09:33:43.033611+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FGD4 was added\ngene: FGD4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGD4 were set to 17564959; 31152969; 28847448; 28543957\nPhenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2026-02-07T09:33:11.786026+11:00",
"panel_name": "Hereditary Neuropathy",
"panel_id": 3070,
"panel_version": "1.88",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FBXO38 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
}
]
}