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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1142",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1140",
"results": [
{
"created": "2021-11-08T14:05:05.191370+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744 to Spastic paraplegia 51, autosomal recessive, MIM# 613744; MONDO:0013401",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-11-08T14:04:32.091401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:57:08.069928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.158",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ATAD1 was added\ngene: ATAD1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD1 were set to 28180185; 29390050; 29659736\nPhenotypes for gene: ATAD1 were set to Hyperekplexia 4 - #618011\nReview for gene: ATAD1 was set to GREEN\nAdded comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. Severe progressive neurological disorder, severe/profound intellectual disability is a feature. \nSources: Expert list, Literature",
"entity_name": "ATAD1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:56:38.292761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.158",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:52:33.339126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.158",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ADCY6 was added\ngene: ADCY6 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADCY6 were set to 24319099, 26257172, 31846058; 33820833\nPhenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8 - #616287\nReview for gene: ADCY6 was set to GREEN\nAdded comment: PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.\r\n\r\nLaquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth.\r\n\r\nGonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency.\r\n\r\nAgolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies. \nSources: Expert list, Literature",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:37:22.092846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9628",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SIK3 was added\ngene: SIK3 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIK3 were set to 30232230; 22318228\nPhenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162\nReview for gene: SIK3 was set to AMBER\nAdded comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.\r\n\r\nIn addition to the skeletal phenotype, the siblings manifested significant developmental delay with brain MRI abnormalities, a severe unclassified immunodeficiency, and normal parathyroid hormone concentration with mild hypercalcemia. \r\n\r\nOne sibling had a more severe phenotype, particularly immunodeficiency, and died of Epstein-Barr virus induced small muscle cancer at 10 years of age. \r\n\r\nMouse models support impaired chondrocyte development with skeletal dysplasia phenotye. \nSources: Expert list, Literature",
"entity_name": "SIK3",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:37:15.334236+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.133",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SIK3 was added\ngene: SIK3 was added to Skeletal dysplasia. Sources: Expert list,Literature\nMode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIK3 were set to 30232230; 22318228\nPhenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162\nReview for gene: SIK3 was set to AMBER\nAdded comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.\r\n\r\nIn addition to the skeletal phenotype, the siblings manifested significant developmental delay with brain MRI abnormalities, a severe unclassified immunodeficiency, and normal parathyroid hormone concentration with mild hypercalcemia. \r\n\r\nOne sibling had a more severe phenotype, particularly immunodeficiency, and died of Epstein-Barr virus induced small muscle cancer at 10 years of age. \r\n\r\nMouse models support impaired chondrocyte development with skeletal dysplasia phenotype. \nSources: Expert list, Literature",
"entity_name": "SIK3",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:24:44.053815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.158",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28374935, 11487567; Phenotypes: Wolman disease, MIM#278000, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:20:08.814954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.158",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:14:41.383095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.158",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 5, multiple types MIM#116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:06:58.509189+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S2 as ready",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:06:58.500663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s2 has been classified as Green List (High Evidence).",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:06:52.645821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S2 were set to ",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:06:39.885487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Contractures are mentioned in the OMIM summary for this disorder, but do not appear to be a common/prominent feature.; to: Dandy-Walker malformation, hydrocephalus, intracranial calcifications reported in some patients.",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:05:57.578251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP1S2: Changed rating: GREEN; Changed phenotypes: Pettigrew syndrome, MIM# 304340",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:05:01.728600+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:05:01.713015+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:04:57.661334+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANTXR1 as Green List (high evidence)",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:04:57.652087+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:04:50.408528+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Ectodermal Dysplasia. Sources: Expert Review\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703\nPhenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740\nReview for gene: ANTXR1 was set to GREEN\nAdded comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.\r\n\r\nIncluded due to overlap with hair and dental anomalies. \nSources: Expert Review",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:04:30.458215+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:04:30.449323+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:03:38.445841+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANTXR1 as Green List (high evidence)",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:03:38.433695+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:03:30.798745+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Hair disorders. Sources: Expert Review\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703\nPhenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740\nReview for gene: ANTXR1 was set to GREEN\nAdded comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported. \nSources: Expert Review",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:02:13.035658+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:02:13.026597+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:02:08.816709+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANTXR1 as Green List (high evidence)",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:02:08.804882+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:01:39.931789+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Optic Atrophy. Sources: Expert Review\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703\nPhenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740\nReview for gene: ANTXR1 was set to GREEN\nAdded comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported. \nSources: Expert Review",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:01:02.276802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:01:02.255477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:00:49.812151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANTXR1 were changed from to GAPO syndrome, MIM# 230740",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T13:00:17.791005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANTXR1 were set to ",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:59:59.568616+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:59:59.556909+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:59:55.215038+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANTXR1 as Green List (high evidence)",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:59:55.206133+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:59:47.599397+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR1 was added\ngene: ANTXR1 was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703\nPhenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740\nReview for gene: ANTXR1 was set to GREEN\nAdded comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported. \nSources: Expert Review",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:59:17.259531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANTXR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:58:33.307718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:57:28.690864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:57:28.681795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:57:24.740117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANTXR1 were changed from GAPO SYNDROME to GAPO syndrome, MIM# 230740",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:57:12.520103+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANTXR1 were set to ",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:56:57.277781+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:53:46.693206+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANOS1 as ready",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:53:46.684341+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anos1 has been classified as Green List (High Evidence).",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:53:39.059003+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:53:10.245141+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANOS1 were set to ",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:52:42.610397+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:52:17.718130+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:51:43.883426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANOS1 as ready",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:51:43.871134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anos1 has been classified as Green List (High Evidence).",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:51:35.563905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:51:18.309246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANOS1 were set to ",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:50:59.069530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:50:39.776840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:50:03.022958+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANOS1 were set to ",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:49:54.438032+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANOS1: Changed publications: 1594017, 8504298, 8989261",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:49:38.253621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANOS1 as ready",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:49:38.240455+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anos1 has been classified as Green List (High Evidence).",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:49:33.222148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANOS1 were changed from Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:49:19.742815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANOS1 were set to ",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:49:05.500132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: None",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:48:39.647168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.152",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:48:17.128655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.152",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32534991, 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:45:22.427712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.152",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HR",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:45:21.685716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD11 as ready",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:45:21.674397+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:45:16.814091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD11 were changed from KBG SYNDROME to KBG syndrome, MIM# 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:44:36.544836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD11 were set to ",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:44:04.897667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:43:52.522349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported. \nSources: Literature; to: Well established gene-disease association. Microcephaly and skeletal abnormalities are common, in addition to ID and dysmorphic features.\r\nSources: Literature",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:43:21.220459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANKRD11: Changed rating: GREEN",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:42:29.710730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKH as ready",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:42:29.701195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankh has been classified as Green List (High Evidence).",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:42:25.974025+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKH were changed from CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE; CHONDROCALCINOSIS 2 to Craniometaphyseal dysplasia, MIM#123000",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:42:15.855113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.148",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:42:13.113244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKH were set to ",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:42:00.473369+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:41:47.655553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANKH: Changed publications: 11326272, 20358596",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:41:06.487703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is not part of the phenotype of this skeletal dysplasia.; to: Can present perinatally with skeletal abnormalities.",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:40:40.725327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANKH: Changed rating: GREEN",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:38:40.727523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANAPC1 as ready",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:38:40.713738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anapc1 has been classified as Green List (High Evidence).",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:38:36.660595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANAPC1 were changed from Rothmund-Thomson Syndrome Type 1 to Rothmund-Thomson syndrome, type 1, MIM# 618625",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:38:21.204300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANAPC1: Changed phenotypes: Rothmund-Thomson syndrome, type 1, MIM# 618625",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:38:12.718392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome, type 1 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:35:11.817528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMT as ready",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:35:11.805762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:35:07.532067+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMT were changed from GLYCINE ENCEPHALOPATHY to Glycine encephalopathy, MIM# 605899",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:34:54.910857+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMT were set to ",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:34:41.103483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 8188235, 11592811; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:25:45.291226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:23:00.754095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type D MIM#113200, Brachydactyly, type E MIM#113300, Syndactyly, type V MIM#186300, Synpolydactyly 1 MIM#186000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:17:02.303091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155570, 18412118, 32864817; Phenotypes: Athabaskan brainstem dysgenesis syndrome MIM#601536, Bosley-Salih-Alorainy syndrome MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2021-11-08T12:03:50.260855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567216, 18445675, 27820671; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM#262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:52:32.770421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.143",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2021-11-08T11:40:31.731333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP4 as ready",
"entity_name": "LTBP4",
"entity_type": "gene"
}
]
}