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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=980",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=978",
"results": [
{
"created": "2022-02-22T11:43:33.785876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nt5c2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:43:29.854168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NT5C2 were changed from Spastic paraplegia 45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:43:16.878556+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NT5C2 were set to ",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:43:03.878861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NT5C2 as Amber List (moderate evidence)",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:43:03.867277+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nt5c2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:42:51.390380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID and CC abnormalities are associated variable features. Nine unrelated families reported, ID reported in >3.; to: ID and CC abnormalities are associated variable features. Nine unrelated families reported.",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:42:38.070615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NT5C2: Changed rating: AMBER",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:42:04.874362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F1 as ready",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:42:04.861367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:42:01.036072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F1 were changed from BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:41:47.279130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F1 were set to ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:41:36.422520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:41:23.647739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Recent review of 54 affected individuals with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS): 22 individuals with point mutations or in-frame deletions in the DNA-binding domain (DBD), and 32 individuals with other types of variants including whole-gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. A more severe phenotype appears to be associated with DBD variants.\r\n\r\nClinical characteristics include developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. Vision phenotype includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment; rarely, alacrima and latent nystagmus (fusional maldevelopment). The behavioural phenotypic spectrum includes a love of music, an unusually good long-term memory, sleep difficulties, a high pain tolerance, and touch sensitivity.; to: Recent review of 54 affected individuals with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS): 22 individuals with point mutations or in-frame deletions in the DNA-binding domain (DBD), and 32 individuals with other types of variants including whole-gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. A more severe phenotype appears to be associated with DBD variants.\r\n\r\nClinical characteristics include developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. Vision phenotype includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment; rarely, alacrima and latent nystagmus (fusional maldevelopment). The behavioural phenotypic spectrum includes a love of music, an unusually good long-term memory, sleep difficulties, a high pain tolerance, and touch sensitivity.\r\n\r\nClinical presentation is typically post-natal.",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:41:06.584456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR2F1: Changed rating: RED",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:40:27.978315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NGLY1 as ready",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:40:27.967216+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ngly1 has been classified as Red List (Low Evidence).",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:40:23.941382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NGLY1 were changed from CONGENITAL DISORDER OF DEGLYCOSYLATION to Congenital disorder of deglycosylation, MIM# 615273",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:40:11.377998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NGLY1 were set to ",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:39:50.133558+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 20 affected individuals reported with bi-allelic variants in this gene. Rat model.; to: Over 20 affected individuals reported with bi-allelic variants in this gene. Rat model.\r\n\r\nClinical presentation is typically post-natal with predominantly neurological features.",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:39:28.240210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NGLY1: Changed rating: RED",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:38:27.674536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFU1 as ready",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:38:27.662395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfu1 has been classified as Red List (Low Evidence).",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:38:23.319860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:38:08.311457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFU1 were set to ",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:37:52.390724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death. Cavitating leukodystrophy and other white matter changes described in multiple affected individuals.; to: Bi-allelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death. Cavitating leukodystrophy and other white matter changes described in multiple affected individuals.\r\n\r\nClinical presentation is typically post-natal.",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:37:38.518895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NFU1: Changed rating: RED",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:33:04.025424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3843",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:28:18.432040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS7 as ready",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:28:18.416453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs7 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:28:12.700981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS7 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 3, MIM#618224",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:27:56.757420+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS7 were set to ",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:27:22.574590+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS4 as ready",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:27:22.563271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs4 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:27:18.728779+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:27:03.966919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS4 were set to ",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:26:49.315956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. See PMID:27079373 for a literature review of 22 published cases.; to: Well established gene-disease association. See PMID:27079373 for a literature review of 22 published cases.\r\n\r\nTypically presents post-natally.",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:26:35.061542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFS4: Changed rating: RED",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:24:47.793599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:24:47.782252+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:24:43.586143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:24:30.882709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to ",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:24:16.539502+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Neurologic disability is a prominent feature.; to: Progressive disorder, typically presents post-natally.",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:23:59.445846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFS1: Changed rating: RED",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:22:56.994993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYT1L as ready",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:22:56.983701+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Red List (Low Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:22:53.270693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYT1L were changed from MYT1L syndrome to Mental retardation, autosomal dominant 39, MIM# 616521",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:22:40.108433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYT1L were set to ",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:22:29.408031+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYT1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:22:15.246092+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems.; to: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. Clinical presentation is typically post-natal.",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:22:02.249659+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYT1L: Changed rating: RED",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:21:36.275020+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC2 as ready",
"entity_name": "MYBPC2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:21:36.263431+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc2 has been classified as Red List (Low Evidence).",
"entity_name": "MYBPC2",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:21:06.057332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPZ as ready",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:21:06.045396+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpz has been classified as Green List (High Evidence).",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:21:01.423201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPZ were changed from Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 2I 607677; Charcot-Marie-Tooth disease, type 1B 118200; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 2J 607736; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Neuropathy, congenital hypomyelinating 605253 to Hypomyelinating neuropathy, congenital, 2, MIM# 618184",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:20:45.798119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:20:34.420383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPZ as Green List (high evidence)",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:20:34.408797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpz has been classified as Green List (High Evidence).",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:20:22.237820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:20:15.026673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MPZ: Added comment: Variants in this gene are associated with various types of neuropathy, most with post-natal onset.\r\n\r\nHowever, at the severe end of the spectrum can present antenatally with decreased fetal movements and arthrogryposis.; Changed rating: GREEN; Changed phenotypes: Hypomyelinating neuropathy, congenital, 2, MIM# 618184; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:18:14.517180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:16:21.772113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX10 as ready",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:16:21.761783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox10 has been classified as Green List (High Evidence).",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:16:16.961150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX10 were changed from KALLMANN SYNDROME WITH DEAFNESS; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; WAARDENBURG SYNDROME TYPE 4C; WAARDENBURG SYNDROME TYPE 2E; YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME to PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:16:02.064787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:15:49.438070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:13:37.371504+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX14 as ready",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:13:37.353384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:13:33.258245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNX14 were changed from ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:13:14.962255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNX14 were set to ",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:13:02.783395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX14 as Amber List (moderate evidence)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:13:02.771626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:11:54.810022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGO1 were changed from Intellectual disability; autism to Neurodevelopmental disorder MONDO:0700092, AGO1-related; non-syndromic ID and seizures",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:11:35.489238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:10:46.232453+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGO1 as ready",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:10:46.220849+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago1 has been classified as Green List (High Evidence).",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:10:43.366254+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGO1 were changed from focal epilepsy; intellectual disability; global developmental delay to Neurodevelopmental disorder MONDO:0700092, AGO1-related; non-syndromic ID and seizures",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:10:04.882187+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGO1 as Green List (high evidence)",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:10:04.869877+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago1 has been classified as Green List (High Evidence).",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:09:26.707613+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, AGO1-related, non-syndromic ID and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:57.691593+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHR as ready",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:57.680436+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshr has been classified as Green List (High Evidence).",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:53.189458+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSHR as Green List (high evidence)",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:53.176483+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshr has been classified as Green List (High Evidence).",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:11.640921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHR as ready",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:11.626996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshr has been classified as Green List (High Evidence).",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:04.939700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSHR as Green List (high evidence)",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:06:04.928133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshr has been classified as Green List (High Evidence).",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-22T11:01:39.624247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3825",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2022-02-22T10:43:09.343835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3825",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25848753, 25439728; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-02-22T09:56:20.899529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11056",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35060114, 30213762, 25356899; Phenotypes: focal epilepsy, intellectual disability, global developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T09:54:54.696983+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1449",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID 35060114 Niu et al 2022 - 4 additional individuals reported with ID/GDD associated with heterozygous de novo AGO1 variants. Authors provide a review of 14 individuals reported in the literature. 5 out of 14 from 3 different studies noted to have epilepsy, predominantly focal seizures. \nSources: Literature; to: PMID 35060114 Niu et al 2022 - 4 additional individuals reported with ID/GDD associated with heterozygous de novo AGO1 variants. Authors provide a review of the 18 individuals reported in the literature. 5 out of 18 from 3 different studies noted to have epilepsy, predominantly focal seizures. \r\nSources: Literature",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-22T09:50:39.900884+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1449",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: AGO1 was added\ngene: AGO1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGO1 were set to 35060114; 30213762; 25356899\nPhenotypes for gene: AGO1 were set to focal epilepsy; intellectual disability; global developmental delay\nReview for gene: AGO1 was set to GREEN\nAdded comment: PMID 35060114 Niu et al 2022 - 4 additional individuals reported with ID/GDD associated with heterozygous de novo AGO1 variants. Authors provide a review of 14 individuals reported in the literature. 5 out of 14 from 3 different studies noted to have epilepsy, predominantly focal seizures. \nSources: Literature",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:54:15.798542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3825",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism.\r\n\r\nPremature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age.\r\n\r\n--- \r\nPMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia\r\n\r\nPMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally.\r\n\r\nPMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold.\r\n\r\nPMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father. \nSources: Literature; to: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism.\r\n\r\nPremature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age.\r\n\r\n--- \r\nPMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia\r\n\r\nPMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally.\r\n\r\nPMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold.\r\n\r\nPMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father. \r\n\r\nPMID: 11081252 M Tonacchera et al 2000 - report SGA\r\n\r\nPMID: 16960398 Nishihara et al 2006 - proband born 32 weeks with 1860g birthweight, postnatal goitre and craniosynostosis\r\n\r\n\r\n\r\n\r\n\r\nSources: Literature",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:51:41.403243+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.32",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. \r\n\r\nMultiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 \nSources: Literature; to: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. \r\n\r\nMultiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 \r\n\r\nBiallelic LoF variants associated with congenital hypothyroidism, CS not a feature.\r\nSources: Literature",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:51:14.665990+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.32",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TSHR was added\ngene: TSHR was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TSHR were set to 9589634; 18655531; 10095169; 8981019; 16260895; 16960398; 11081252; 18528812; 30599487; 20138963\nPhenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune - MIM#609152; Hyperthyroidism, familial gestational - MIM#603373; Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200\nReview for gene: TSHR was set to GREEN\nAdded comment: Monoallelic variants associated with hyperthyroidism - de novo GoF variants in particular associated with more severe phenotype including congenital hyperthyroidism. \r\n\r\nMultiple case reports of postnatal diagnosis of craniosynostosis in the context of advancing bone age. Review summarising phenotypic features - PMID 20138963. CS reported in PMID 30599487; 9589634; 18655531; 16260895; 16960398 ; 11081252; 18528812 \nSources: Literature",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:42:50.483024+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3825",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TSHR was added\ngene: TSHR was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TSHR were set to 23295291; 9360555; 7800007; 18655531; 15163335\nPhenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune - MIM#609152; Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200\nReview for gene: TSHR was set to GREEN\nAdded comment: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism.\r\n\r\nPremature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age.\r\n\r\n--- \r\nPMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia\r\n\r\nPMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally.\r\n\r\nPMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold.\r\n\r\nPMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father. \nSources: Literature",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:20:00.611930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPV17 as ready",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:20:00.597157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Red List (Low Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:19:56.678063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPV17 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 6 to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810",
"entity_name": "MPV17",
"entity_type": "gene"
}
]
}