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{
"count": 220459,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=960",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=958",
"results": [
{
"created": "2022-03-01T10:10:04.745257+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SATB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:09:34.647085+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:09:34.635451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:09:29.128888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from SHWACHMAN-DIAMOND SYNDROME to Shwachman-Diamond syndrome, MIM#260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:09:13.127097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SBDS were set to ",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:08:58.400810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Some cognitive involvement but ID rare, see reference.; to: Multiple skeletal abnormalities.",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:08:45.652028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SBDS: Changed rating: GREEN",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:07:43.293931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARF2 as ready",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:07:43.276342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarf2 has been classified as Green List (High Evidence).",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:07:39.512739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCARF2 were changed from VAN DEN ENDE-GUPTA SYNDROME to Van den Ende-Gupta syndrome, MIM# 600920",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:07:26.012186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCARF2 were set to ",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:06:51.921070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:06:51.909554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:06:48.070606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from SENIOR-LOKEN SYNDROME 7 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:06:34.475086+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:04:26.792816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC23B as ready",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:04:26.773201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23b has been classified as Green List (High Evidence).",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:04:22.926179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC23B were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:04:07.644222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC23B as Green List (high evidence)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:04:07.631263+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23b has been classified as Green List (High Evidence).",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:03:55.144535+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 20 families reported. Clinical presentation is typically post-natal.; to: Over 20 families reported. Clinical presentation is typically post-natal. However, at least two families reported with fetal hydrops.",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:03:27.675007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC23B: Changed rating: GREEN; Changed publications: 20381388; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:02:45.175944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC23B as Red List (low evidence)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:02:45.113713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23b has been classified as Red List (Low Evidence).",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:02:33.206178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 20 families reported.; to: Over 20 families reported. Clinical presentation is typically post-natal.",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:02:18.424519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC23B: Changed rating: RED",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:00:27.121457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3A as ready",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-03-01T10:00:27.108909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3a has been classified as Green List (High Evidence).",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-02-28T22:00:59.401858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBC1D7 was added\ngene: TBC1D7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D7 were set to 23687350; 24515783\nPhenotypes for gene: TBC1D7 were set to Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000\nReview for gene: TBC1D7 was set to AMBER\nAdded comment: PMID: 24515783 report 2 siblings with biallelic variants. One noted to be macrosomic at birth and parents reported macrocephaly.\r\n\r\nPMID: 23687350 report 2 affected siblings. One was noted to be macrocephalic at birth. \nSources: Literature",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:52:26.979633+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TAOK1 was added\ngene: TAOK1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAOK1 were set to 35091509; 31230721; 33565190\nPhenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575\nReview for gene: TAOK1 was set to GREEN\nAdded comment: Heterozygous TAOK1 variants associated with developmental delay\r\n\r\nPMID 35091509 - complication of polyhydramnios noted in 2 pregnancies in unrelated families\r\n\r\nPMID 33565190:\r\n- 1 patient with ventriculomegaly detected 28 week USS and polyhydramnios with secondary complication of multi-suture craniosynostosis\r\n- 1 infant with low birth weight. \r\n- 1 individual - antenatal history includes polyhydramnios at 5 months gestation\r\n\r\nPMID 31230721 - report one individual noted to be macrocephalic at birth with cleft palate \nSources: Literature",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:34:30.344609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: STT3A was added\ngene: STT3A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STT3A were set to 34653363; 23842455; 30701557; 28424003\nPhenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal dominant - MIM#619714; Congenital disorder of glycosylation, type Iw, autosomal recessive - MIM#615596\nReview for gene: STT3A was set to GREEN\nAdded comment: Biallelic variants associated with an earlier onset of symptoms. PMID: 23842455 report IUGR in one infant. PMID: 28424003 - report 5 affected individuals from one family, birth growth parameters of 4/5 individuals suggestive of growth restriction/relative microcephaly.\r\n---\r\nID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)\r\n\r\nPMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be \"healthy\" until reaching young adulthood\r\nClinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).\r\nFunctional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged). \nSources: Literature",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:14:41.841170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: RHEB was added\ngene: RHEB was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RHEB were set to 29051493; 31337748\nPhenotypes for gene: RHEB were set to Intellectual disability; Macrocephaly; Focal cortical dysplasia\nReview for gene: RHEB was set to GREEN\nAdded comment: No new publications since last PanelApp review. Reviewed PMID: 29051493 supplementary information - three individuals with short stature and macrocephaly. Limited antenatal information provided/birth HC parameters, but one of the affected individuals was noted to have a large head circumference from 20 weeks gestation. PMID 31337748: Somatic variant in this gene found in one individual with focal cortical dysplasia.\r\n\r\n---\r\n3 individuals from two families with heterozygous RHEB variants. Two siblings carried the c.110 C > T (p.Pro37Leu) variant, and a sporadic individual carried the c.202 T>C (p.Ser68Pro) allele. All 3 individuals had short stature (−2 to −3 SD) and early brain overgrowth with pronounced macrocephaly during childhood (+2.5/+3 SD). They had severe to profound ID with hypotonia, as well as autism spectrum disorder. 2 of 3 individuals were reported to have epilepsy. In a zebrafish model, overexpression of RHEB produced megalencephaly, supporting a hyperactivating effect. This is supported in mice where loss of RHEB activity does not cause an overt neurological phenotype\r\nSingle individual with somatic variants in this gene and focal cortical dysplasia also reported. \nSources: Literature",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:02:01.409895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPSECS as ready",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:02:01.394117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sepsecs has been classified as Green List (High Evidence).",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:01:57.300907+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPSECS were changed from Pontocerebellar hypoplasia type 2D to Pontocerebellar hypoplasia type 2D, MIM#613811",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:01:42.873811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEPSECS were set to 26805434; 26888482; 29464431",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:01:22.673466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:00:46.161308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD5 as ready",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:00:46.149519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd5 has been classified as Green List (High Evidence).",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:00:42.214622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD5 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 to Intellectual disability, autosomal dominant 23 (MIM # 615761)",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2022-02-28T21:00:26.774975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD5 were set to ",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:59:16.512480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHH as ready",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:59:16.501493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shh has been classified as Green List (High Evidence).",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:59:12.611198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHH were changed from MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5; TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME; HOLOPROSENCEPHALY TYPE 3; SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR to 1. Holoprosencephaly 3 (MIM#142945), AD; 2. Microphthalmia with coloboma 5 (MIM#611638), AD; 3. Schizencephaly (MIM#269160); 4. Single median maxillary central incisor (MIM#147250) AD",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:58:49.403450+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHH were set to ",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:58:19.860614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:57:45.972777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOC2 as ready",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:57:45.954517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Green List (High Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:57:19.042044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOC2 were changed from NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR to Noonan syndrome-like with loose anagen hair 1, MIM# 607721",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:57:00.113114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHOC2 were set to ",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:56:44.760018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:56:34.095773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHOC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:55:24.356379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOX as ready",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:55:24.347155+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:55:20.036395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOX were changed from LANGER MESOMELIC DYSPLASIA; LERI-WEILL DYSCHONDROSTEOSIS to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:47:46.266815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4392",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PPP2R5C was added\ngene: PPP2R5C was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2R5C were set to 25972378\nPhenotypes for gene: PPP2R5C were set to macrocephaly; overgrowth\nReview for gene: PPP2R5C was set to AMBER\nAdded comment: x1 case only in the literature with relative macrocephaly noted at birth.\r\n\r\nPMID: 25972378 - Loveday et al 2015 undertook trio exome sequencing in children with an overgrowth syndrome phenotype with unaffected parents. One individual with a de novo PPP2R5C c.468_470delAAC\tp.Thr157del variant identified. The proband had moderate ID, was born at 37 weeks gestation weighing 3100g (0.8SD) with a head circumference of 36cm (2.4SD). \nSources: Literature",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:43:52.122210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHOX.",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:43:24.469476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIL1 as ready",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:43:24.457773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sil1 has been classified as Green List (High Evidence).",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:43:18.730844+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIL1 were set to ",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:43:03.057217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marinesco-Sjogren syndrome (MIM#248800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:29:48.062810+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAP1 were changed from syndromic intellectual disability MONDO:0000508 to Kury-Isidor syndrome\t, MIM#619762",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:29:22.181329+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAP1 were changed from syndromic intellectual disability MONDO:0000508 to Kury-Isidor syndrome\t, MIM#619762",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:28:46.819969+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAP1 were changed from Kury-Isidor syndrome\t, MIM#619762 to Kury-Isidor syndrome\t, MIM#619762",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:28:16.135645+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAP1 were changed from syndromic intellectual disability MONDO:0000508 to Kury-Isidor syndrome\t, MIM#619762",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:27:31.078309+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kury-Isidor syndrome, MIM# 619762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:26:18.181509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700; MONDO:0010602 to Haemophilia A, MIM# 306700; MONDO:0010602; Thrombophilia 13, X-linked, due to factor VIII defect, MIM#\t301071",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:25:49.705214+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700; MONDO:0010602 to Haemophilia A, MIM# 306700; MONDO:0010602; Thrombophilia 13, X-linked, due to factor VIII defect, MIM#\t301071",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:24:40.789382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B2 were changed from Craniofacial microsomia to Craniofacial microsomia, MIM#164210",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:24:22.965419+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B2 were changed from Craniofacial microsomia to Craniofacial microsomia, MIM#164210",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:23:57.083597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B2 were changed from Craniofacial microsomia to Craniofacial microsomia, MIM#164210",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:23:31.173627+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B2 were changed from Craniofacial microsomia to Craniofacial microsomia, MIM#164210",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:01:14.211516+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX3 as ready",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:01:14.143316+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six3 has been classified as Green List (High Evidence).",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:01:09.612693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX3 were changed from HOLOPROSENCEPHALY to Holoprosencephaly 2, MIM# 157170; Schizencephaly (MIM#269160)",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:00:48.310286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX3 were set to ",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-02-28T20:00:33.390720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:59:57.207644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC10A7 as ready",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:59:57.194001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:59:53.284789+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC10A7 were changed from Chondrodysplasia with multiple dislocations and amelogenesis imperfecta to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:59:43.236654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC10A7 were set to 29878199; 30082715",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:59:05.913268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A1 as ready",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:59:05.892738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:59:02.113951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1 601678 to Bartter syndrome, type 1, MIM#601678",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:58:44.910835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:58:41.734211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Polyhydramnios.; to: Polyhydramnios is a presenting feature.",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:58:31.145133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC12A1: Added comment: Polyhydramnios.; Changed rating: GREEN",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:57:27.910606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:57:27.900517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:57:24.282752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC13A5 were changed from EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:57:11.021553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A5 were set to ",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:56:56.223776+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 7 unrelated families reported.; to: At least 7 unrelated families reported. Microcephaly is a feature.",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:55:10.951249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:55:10.939894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:55:06.690571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY to Allan-Herndon-Dudley syndrome, MIM# 300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:54:44.310062+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:54:32.105040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC16A2 as Amber List (moderate evidence)",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:54:32.095588+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:54:19.840154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC16A2: Added comment: Clinical presentation is typically post-natal, including microcephaly of post-natal onset.; Changed rating: AMBER",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-02-28T19:12:55.272889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A10 as ready",
"entity_name": "SLC2A10",
"entity_type": "gene"
}
]
}