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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1198",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1196",
"results": [
{
"created": "2021-09-30T09:24:37.813391+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:14:16.789801+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF8 were set to 24569166",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:13:45.829785+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF8 as Amber List (moderate evidence)",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:13:45.819730+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:13:23.965701+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FGF8.",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:13:16.023405+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 34433009; Phenotypes: Hypoplastic femurs and pelvis, MIM#619545; Mode of inheritance: None",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:12:07.276205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Femoral hypoplasia to Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Hypoplastic femurs and pelvis, MIM#619545",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:11:35.905760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF8: Changed phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702, Hypoplastic femurs and pelvis, MIM#619545",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:10:23.562762+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 19012874, 12052883, 28422132, 26506440; Phenotypes: Mental retardation, autosomal dominant 3 MIM#612580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDH15",
"entity_type": "gene"
},
{
"created": "2021-09-30T09:07:16.472690+10:00",
"panel_name": "Vasculopathy SuperPanel",
"panel_id": 3731,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Vasculopathy SuperPanel\nSet child panels to: Vascular Malformations_Somatic; Vascular Malformations_Germline; Lymphoedema_nonsyndromic; Lymphoedema_syndromic\nSet panel types to: Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-29T20:05:26.269488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL6IP6 as ready",
"entity_name": "ARL6IP6",
"entity_type": "gene"
},
{
"created": "2021-09-29T20:05:26.260616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl6ip6 has been classified as Red List (Low Evidence).",
"entity_name": "ARL6IP6",
"entity_type": "gene"
},
{
"created": "2021-09-29T20:05:13.603012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL6IP6 was added\ngene: ARL6IP6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARL6IP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL6IP6 were set to 31142202\nPhenotypes for gene: ARL6IP6 were set to Cutis marmorata telangiectatica congenita\nReview for gene: ARL6IP6 was set to RED\nAdded comment: A single case reported from a consanguineous family with a homozygous nonsense variant (p.Trp64Ter). \nSources: Literature",
"entity_name": "ARL6IP6",
"entity_type": "gene"
},
{
"created": "2021-09-29T18:11:00.698017+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: FRA7A: Added comment: Bioinformatic analysis of 544 whole genomes from non-affected individuals demonstrated a range of 5-53 repeats, with a median of 13.; Changed publications: 25196122, 33510257",
"entity_name": "FRA7A",
"entity_type": "str"
},
{
"created": "2021-09-29T18:09:03.244363+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: FRA2A: Added comment: Bioinformatic analysis of 544 whole genomes from non-affected individuals demonstrated a range of 1-64 repeats, with a median of 16.; Changed publications: 24763282, 33510257",
"entity_name": "FRA2A",
"entity_type": "str"
},
{
"created": "2021-09-29T18:05:37.728874+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: FRA12A: Added comment: Bioinformatic analysis of 544 whole genomes from non-affected individuals demonstrated a range of 8-120 repeats, with a median of 8.; Changed publications: 17236128, 33510257",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2021-09-29T15:14:27.855182+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARL6IP6 as ready",
"entity_name": "ARL6IP6",
"entity_type": "gene"
},
{
"created": "2021-09-29T15:14:27.844297+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl6ip6 has been classified as Red List (Low Evidence).",
"entity_name": "ARL6IP6",
"entity_type": "gene"
},
{
"created": "2021-09-29T15:14:12.066995+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL6IP6 was added\ngene: ARL6IP6 was added to Vascular Malformations_Germline. Sources: Other\nMode of inheritance for gene: ARL6IP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL6IP6 were set to 31142202\nPhenotypes for gene: ARL6IP6 were set to Cutis marmorata telangiectatica congenita\nReview for gene: ARL6IP6 was set to RED\nAdded comment: A single case reported from a consanguineous family with a homozygous nonsense variant (p.Trp64Ter). \nSources: Other",
"entity_name": "ARL6IP6",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:15:21.495463+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPE as ready",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:15:21.484302+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Green List (High Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:15:17.038095+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPE as Green List (high evidence)",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:15:17.028185+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Green List (High Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:14:49.721240+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPE was added\ngene: CPE was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPE were set to 26120850; 32936766; 34383079\nPhenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326\nReview for gene: CPE was set to GREEN\nAdded comment: 8 individuals from 5 unrelated families reported. \nSources: Literature",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:13:12.945007+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPE were set to 26120850; 32936766",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:12:39.663098+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPE as Green List (high evidence)",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:12:39.652693+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Green List (High Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:12:10.761794+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CPE: Added comment: Bosch et al. 2021 (PMID: 34383079) reported on 4 individuals from 3 additional families harbouring 2 different homozygous truncating variants in this gene. Clinical presentation was prominent for obesity and intellectual disability. Hypogonadotropic hypogonadism was confirmed in one individual and was suspected but not tested for in another two subjects.; Changed rating: GREEN; Changed publications: 26120850, 32936766, 34383079; Changed phenotypes: Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:11:05.086684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPE were set to 26120850; 32936766",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:10:44.186567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPE as Green List (high evidence)",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T13:10:44.177124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpe has been classified as Green List (High Evidence).",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-29T01:06:49.689413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9270",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 34383079; Phenotypes: Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPE",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:39:03.863604+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:39:03.853352+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Red List (Low Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:39:01.346745+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:38:31.975363+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCFC1 were set to ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:38:08.383177+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCFC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:37:42.563842+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCFC1 as Red List (low evidence)",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:37:42.550972+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Red List (Low Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:37:11.014326+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCFC1: Rating: RED; Mode of pathogenicity: None; Publications: 34164576, 24011988, 31207118; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:34:34.091196+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:34:34.054974+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:34:23.854842+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:33:54.023850+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCFC1 were set to ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:33:25.805869+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCFC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:32:52.442081+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34164576, 24011988; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:30:27.517855+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:30:27.508853+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:30:24.203005+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:29:40.594985+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCFC1 were set to ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:29:20.984363+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCFC1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T17:28:57.621525+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCFC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T16:35:23.962230+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-28T16:35:23.952482+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-28T16:34:57.039083+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-28T16:34:28.309488+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-28T16:33:56.579864+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-28T15:48:01.872207+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association with >20 individuals reported\r\n\r\nVariants in the HCFC1 gene are associated with cases of syndromic and non-syndromic intellectual disability. Individuals present with severely delayed psychomotor development apparent in infancy, and severe neurological defects including intractable epilepsy, facial dysmorphia, and intellectual disability.; to: Well-established gene-disease association with >20 individuals reported\r\n\r\nVariants in the HCFC1 gene are associated with cases of syndromic and non-syndromic intellectual disability. Individuals present with severely delayed psychomotor development apparent in infancy, and severe neurological defects including intractable epilepsy, facial dysmorphia, and intellectual disability.\r\nSeizures being a prominent feature in this phenotype. ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T15:46:15.779259+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34164576, 24011988; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type) MIM# 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-09-28T15:36:50.395038+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: 7 families reported males with hemizygous EIF2S3 variants; one mouse model.\r\n\r\nEIF2S3 variants cause intellectual disability syndrome, MEHMO which is derived from the clinical hallmarks: mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. \r\nSeizures are prominent within this phenotype (more than 60% of patients).; to: 7 families reported males with hemizygous EIF2S3 variants; one mouse model.\r\n\r\nEIF2S3 variants cause intellectual disability syndrome, MEHMO which is derived from the clinical hallmarks: mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. \r\nSeizures are prominent within this phenotype.",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-28T15:31:35.482680+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33714664, 32799315, 28055140; Phenotypes: MEHMO syndrome MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:53:57.024957+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTB as ready",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:53:57.010970+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:53:52.354784+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSTB as Green List (high evidence)",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:53:52.344023+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:53:29.521998+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: CSTB.\nTag STR tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:53:18.549334+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTB was added\ngene: CSTB was added to Regression. Sources: Expert Review\nMode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSTB were set to 9012407; 9054946\nPhenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800\nReview for gene: CSTB was set to GREEN\nAdded comment: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.\r\n\r\nNote the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also. \nSources: Expert Review",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:50:31.829985+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTB as ready",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:50:31.821010+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Red List (Low Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:50:28.211457+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTB were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:49:57.018539+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSTB were set to ",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:49:23.395902+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSTB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:48:16.451284+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSTB as Red List (low evidence)",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:48:16.441779+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Red List (Low Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:47:16.975383+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:46:02.863700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTB as ready",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:46:02.852597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:45:56.015601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTB were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800; Keratolytic winter erythema (MIM#148370)",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:45:12.553780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSTB were set to ",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:44:41.019216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSTB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:44:20.914328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32920378, 18028412, 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:43:10.868967+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTB as ready",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:43:10.865105+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:43:10.834463+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:43:07.195562+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: CSTB.\nTag STR tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:42:49.465909+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:42:16.743750+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTB were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:41:00.952432+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSTB were set to ",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:40:24.008093+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSTB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:38:46.577698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3E as ready",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:38:46.567770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3e has been classified as Green List (High Evidence).",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:38:39.317896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3E were changed from to Immunodeficiency 18 MIM# 615615",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:37:33.167528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD3E were set to ",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:37:12.980565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD3E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:36:42.467719+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3E as ready",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:36:42.459096+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3e has been classified as Green List (High Evidence).",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:36:36.757877+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3E were changed from to Immunodeficiency 18 MIM# 615615",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:36:03.597109+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD3E were set to ",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:35:39.924327+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD3E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:34:46.968101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3D as ready",
"entity_name": "CD3D",
"entity_type": "gene"
}
]
}