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{
"count": 220892,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1620",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1618",
"results": [
{
"created": "2020-09-01T20:20:23.806924+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Green List (High Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:11.731451+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: IARS.",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:04.164600+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IARS as Green List (high evidence)",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:20:04.155030+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars has been classified as Green List (High Evidence).",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:19:21.004440+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS was added\ngene: IARS was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS were set to 27426735; 27891590\nPhenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#\t617093\nReview for gene: IARS was set to GREEN\nAdded comment: Microcephaly -3 to -5SD is part of the phenotype of this autosomal recessive multisystem disorder characterised by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present. At least 4 families reported. Note HGNC approved name is IARS1. \nSources: Expert list",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:08.581368+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:08.570294+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:04.383873+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGF1 as Green List (high evidence)",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:15:04.375691+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:14:41.832955+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1 was added\ngene: IGF1 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGF1 were set to 15769976; 14684690; 8857020\nPhenotypes for gene: IGF1 were set to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM#\t608747\nReview for gene: IGF1 was set to GREEN\nAdded comment: Severe growth retardation including significant microcephaly. \nSources: Expert list",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:12.227571+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1R as ready",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:12.217374+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:07.951232+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGF1R as Green List (high evidence)",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:11:07.942738+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T20:10:26.186969+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1R was added\ngene: IGF1R was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IGF1R were set to 14657428; 25040157; 23045302; 26252249; 15928254\nPhenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, MIM#\t270450\nReview for gene: IGF1R was set to GREEN\nAdded comment: Severe IUGR including significant microcephaly, both mono-allelic and bi-allelic variants reported. \nSources: Expert list",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:25.506536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:25.497928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:17.929450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, MIM#612379; Kahrizi syndrome, MIM# 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:54:05.368021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A3 were set to ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:53:45.429835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:53:27.913434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:53:20.942071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRD5A3: Added comment: Over 25 families reported, well established gene-disease association for CDG. Allelic disorder Kahrizi syndrome has overlapping features, may not be distinct entity.; Changed publications: 32424323; Changed phenotypes: Congenital disorder of glycosylation, type Iq, MIM#612379, Kahrizi syndrome, MIM# 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:52:05.594715+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:52:05.583104+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:51:45.798736+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, MIM# 612379; Kahrizi syndrome, MIM# 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:51:23.091442+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A3 were set to ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:50:57.216298+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:50:34.103080+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323; Phenotypes: Congenital disorder of glycosylation, type Iq, MIM# 612379, Kahrizi syndrome, MIM# 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:30.567207+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF14 as ready",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:30.555624+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:26.433333+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from to Microcephaly 20, primary, autosomal recessive, MIM# 617914; Meckel syndrome 12, MIM# 616258",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:45:02.062359+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF14 were set to ",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:44:37.944970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:44:06.308292+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892560, 29343805; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM# 617914, Meckel syndrome 12, MIM# 616258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:42:12.937968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF14 as ready",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:42:12.927992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:42:06.543363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from to Microcephaly 20, primary, autosomal recessive, MIM# 617914; Meckel syndrome 12, MIM# 616258",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:41:49.643889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF14 were set to ",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:41:32.667718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:41:14.806322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892560, 29343805, 24128419; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM# 617914, Meckel syndrome 12, MIM# 616258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:39:16.643440+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF14 as ready",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:39:16.633062+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:38:27.537292+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from to Microcephaly 20, primary, autosomal recessive, MIM# 617914",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:36:54.997668+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF14 were set to ",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:36:32.564312+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:36:08.195668+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892560, 29343805; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM# 617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:40.980530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1BP as ready",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:40.968769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Green List (High Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:34.208323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome, MIM# 609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:16.938623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1BP were set to ",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:31:01.065383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:30:44.863598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIF1BP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:30:32.156022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM# 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:30:03.883730+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1BP as ready",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:30:03.867360+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Green List (High Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:29:57.856654+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF1BP as Green List (high evidence)",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:29:57.846917+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Green List (High Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:29:33.740942+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIF1BP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:29:25.706259+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1BP was added\ngene: KIF1BP was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1BP were set to 23427148\nPhenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, MIM#\t609460\nReview for gene: KIF1BP was set to GREEN\nAdded comment: Autosomal recessive multiple congenital anomaly syndrome characterised by intellectual disability, microcephaly, and dysmorphic facial features. Most individuals also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Well established gene-disease association, multiple families reported. Note HGNC approved name is KIAA1279. \nSources: Expert list",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:21:23.208832+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL7 as ready",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:21:23.198471+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:21:21.013356+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL7 were changed from to PERCHING syndrome, MIM# 617055",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:21:00.127319+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL7 were set to ",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:20:38.875853+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:19:50.453636+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL7 as Amber List (moderate evidence)",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:19:50.443834+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:19:23.356030+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: None; Publications: 27392078, 29074562; Phenotypes: PERCHING syndrome, MIM# 617055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:01:03.499154+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP11 as ready",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:01:03.482877+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip11 has been classified as Green List (High Evidence).",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:00:56.559392+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP11 were changed from to Achondrogenesis, type IA, MIM# 200600",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:00:33.788373+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP11 were set to ",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T15:00:07.977500+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:59:40.761971+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20089971; Phenotypes: Achondrogenesis, type IA, MIM# 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:57:12.658003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP11 as ready",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:57:12.647000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip11 has been classified as Green List (High Evidence).",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:57:06.900543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP11 were changed from to Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:56:51.356674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP11 were set to ",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:56:39.412603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:53.377908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRF1 as ready",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:53.372506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Principal association is between bi-allelic variants and HLH.",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:53.338169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Green List (High Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:42.366343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRF1 were changed from to Aplastic anemia 609135; Hemophagocytic lymphohistiocytosis, familial, 2 603553; Lymphoma, non-Hodgkin 605027",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:30.733846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRF1 were set to ",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:55:14.776646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:31.134023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HLCS as ready",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:31.120940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Green List (High Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:24.700362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HLCS were changed from to Holocarboxylase synthetase deficiency, MIM# 253270",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:53:11.071748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HLCS were set to ",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:52:54.829205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HLCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:52:38.639878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:50:37.344339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:50:10.581099+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CA5A.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:49:39.815448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA5A as ready",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:49:39.807428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Green List (High Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:49:33.189785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:48:47.393459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CA5A were set to ",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:48:28.890048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:48:12.684265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CA5A.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:47:01.140589+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS1 as ready",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-09-01T14:47:01.130659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs1 has been classified as Green List (High Evidence).",
"entity_name": "MOCS1",
"entity_type": "gene"
}
]
}