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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2020",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2018",
"results": [
{
"created": "2019-12-31T12:06:10.653478+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb3 has been classified as Red List (Low Evidence).",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T12:06:02.938632+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJB3 were set to 9843210",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T12:05:38.431555+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJB3 were changed from to Deafness, autosomal dominant 2B, MIM# 612644",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T12:05:17.556028+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJB3 were set to ",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T12:04:54.384829+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T12:04:33.971820+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJB3 as Red List (low evidence)",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T12:04:33.903812+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb3 has been classified as Red List (Low Evidence).",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T12:04:05.227903+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 9843210; Phenotypes: Deafness, autosomal dominant 2B, MIM# 612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:59:19.764878+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPS8L2 as ready",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:59:19.752064+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eps8l2 has been classified as Green List (High Evidence).",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:59:15.372410+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPS8L2 as Green List (high evidence)",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:59:15.359309+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eps8l2 has been classified as Green List (High Evidence).",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:58:45.848269+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPS8L2 was added\ngene: EPS8L2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPS8L2 were set to 26282398; 23918390; 28281779\nPhenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM#\t617637\nReview for gene: EPS8L2 was set to GREEN\nAdded comment: Two unrelated families and a mouse model. \nSources: Expert list",
"entity_name": "EPS8L2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:58:21.913679+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.59",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: EPS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741995; Phenotypes: Nonsyndromic sensorineural deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:55:08.361631+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:55:05.436253+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMOD3 as ready",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:55:05.423203+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmod3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:54:44.828046+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMOD3 were changed from Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:54:23.712173+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:53:59.763587+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELMOD3 were set to ",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:53:36.362402+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELMOD3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:53:10.816279+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELMOD3 as Amber List (moderate evidence)",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:53:10.803251+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmod3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:52:31.327222+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:51:07.684383+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.55",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "changed review comment from: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families. \nSources: Expert list; to: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). As a dominant cause of non syndromic deafness this gene is RED. Single paper with AR phenotype in 3 unrelated families - for the AR phenotype is GREEN. \r\nSources: Expert list",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:50:09.972116+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.55",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "edited their review of gene: DMXL2: Changed rating: GREEN",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:49:48.468436+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.55",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "gene: DMXL2 was added\ngene: DMXL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: DMXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DMXL2 were set to 27657680; 22875945; 31688942\nPhenotypes for gene: DMXL2 were set to Autosomal dominant hearing loss; autosomal recessive EE with deafness\nReview for gene: DMXL2 was set to RED\nAdded comment: Moderate by ClinGen expert panel classification but single large family and functional studies only (AD). Single paper with AR phenotype in 3 unrelated families. \nSources: Expert list",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:46:04.405589+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:46:04.392860+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:46:02.077735+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM# 277580",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:45:38.129145+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:45:05.124182+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:43:45.254256+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN3 were changed from Waardenburg syndrome, type 4B, MIM# 613265 to Waardenburg syndrome, type 4B, MIM# 613265",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:43:30.866913+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:43:30.853458+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:43:24.488211+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, MIM# 613265",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:43:00.966308+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDN3 were set to ",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:42:38.060426+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:42:06.830354+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 19764030; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:36:26.123147+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH3 as ready",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:36:26.111588+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph3 has been classified as Red List (Low Evidence).",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:36:21.299126+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, MIM#609129 to Auditory neuropathy, autosomal dominant, 1, MIM#609129",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:36:00.676286+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIAPH3 were changed from to Auditory neuropathy, autosomal dominant, 1, MIM#609129",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:35:59.279725+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.48",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: Other; Publications: 21722859, 10929711; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:35:39.359521+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIAPH3 were set to ",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:35:16.491908+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DIAPH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:34:49.898044+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIAPH3 as Red List (low evidence)",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:34:49.886947+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph3 has been classified as Red List (Low Evidence).",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:34:17.959546+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DIAPH3: Rating: RED; Mode of pathogenicity: None; Publications: 23441200, 20624953; Phenotypes: Auditory neuropathy, autosomal dominant, 1, MIM#609129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:29:43.546949+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.45",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: CRYM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Autosomal dominant hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:29:41.966857+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCDC2 as ready",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:29:41.955267+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcdc2 has been classified as Red List (Low Evidence).",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:29:35.647458+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCDC2 was added\ngene: DCDC2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCDC2 were set to 25601850; 22558177; 25130614\nPhenotypes for gene: DCDC2 were set to Deafness, autosomal recessive 66, MIM#\t610212\nReview for gene: DCDC2 was set to RED\nAdded comment: Single family reported with deafness, some supportive functional data. Rated as LIMITED by ClinGen. \nSources: Expert list",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:25:01.769133+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A6 were changed from Deafness, X-linked 6, MIM# 300914 to Deafness, X-linked 6, MIM# 300914",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:24:45.598704+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A6 as ready",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:24:45.584561+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:24:40.819568+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to 23714752",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:24:20.305903+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6, MIM# 300914",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:23:56.840457+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to ",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:23:33.140521+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:23:09.498618+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Red List (low evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:23:09.487650+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:22:36.662665+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM# 300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:20:31.686650+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.41",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "gene: CEP78 was added\ngene: CEP78 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP78 were set to 28005958; 27588451; 27588452; 27627988\nPhenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss\nReview for gene: CEP78 was set to GREEN\nAdded comment: Classified as 'Strong'by ClinGen hearing loss expert panel. Atypical Usher phenotype. \nSources: Expert list",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:18:35.053148+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLIC5 as ready",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:18:35.040147+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clic5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:18:31.945612+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:18:02.914934+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Deafness, autosomal recessive 103, MIM# 616042",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:17:43.102085+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:17:23.032932+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLIC5 were set to 24781754; 17021174",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:17:02.776868+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLIC5 were set to ",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:16:42.484696+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLIC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:16:19.221134+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLIC5 as Amber List (moderate evidence)",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:16:19.209157+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clic5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:15:49.139579+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:11:09.471783+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM# 604928 to Wolfram syndrome 2, MIM# 604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:10:56.853815+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CISD2 as ready",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:10:56.839458+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cisd2 has been classified as Green List (High Evidence).",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:10:48.621043+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM# 604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:10:27.921155+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:09:57.655949+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM# 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:08:07.824412+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEACAM16 as ready",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:08:07.813592+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ceacam16 has been classified as Green List (High Evidence).",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:08:04.624936+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:07:40.745322+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEACAM16 were set to ",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:07:17.201950+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:06:47.682043+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:05:57.158031+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.31",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: CCDC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 17503326, 27911912; Phenotypes: Childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:00:17.855317+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC14A as ready",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:00:17.844045+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc14a has been classified as Green List (High Evidence).",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2019-12-31T11:00:15.195978+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC14A were changed from to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:59:49.612134+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDC14A were set to ",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:59:25.758652+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDC14A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:58:52.845117+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 27259055; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:54:38.721044+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD164 as ready",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:54:38.710216+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd164 has been classified as Red List (Low Evidence).",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:54:31.594809+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD164 was added\ngene: CD164 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CD164 were set to 26197441\nPhenotypes for gene: CD164 were set to Deafness, autosomal dominant 66, MIM#\t616969\nReview for gene: CD164 was set to RED\nAdded comment: Single family reported; rated as LIMITED evidence by ClinGen. \nSources: Expert list",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:51:14.506782+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1D as ready",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:51:14.495140+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:51:04.014537+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1D were changed from Sinoatrial node dysfunction and deafness, MIM# 614896 to Sinoatrial node dysfunction and deafness, MIM# 614896",
"entity_name": "CACNA1D",
"entity_type": "gene"
}
]
}