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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1099",
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"results": [
{
"created": "2021-12-06T14:01:35.109637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPH were changed from to Traboulsi syndrome , MIM#601552",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:57:21.172922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPH were set to ",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:53:55.304491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:53:37.304931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:52:47.621730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPH as ready",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:52:47.611461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asph has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:52:43.778343+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPH were set to ",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:52:28.798178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:48:21.567656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID2 as ready",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:48:21.556449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid2 has been classified as Green List (High Evidence).",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:48:17.443816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder to Coffin-Siris syndrome 6, MIM# 617808",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:48:04.815881+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARID2 were set to ",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:47:02.663063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:46:50.727126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARID2 as Green List (high evidence)",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:46:50.716608+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid2 has been classified as Green List (High Evidence).",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:46:37.269971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported.\r\n\r\nShort stature and minor dysmorphisms/congenital anomalies reported, e.g. micrognathia.",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:44:20.675285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP29 as ready",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:44:20.664523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap29 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:44:12.433700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP29 were changed from to Cleft palate; cleft lip with or without cleft palate",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T13:20:15.153903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.960",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301351; Phenotypes: Alexander disease MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:56:40.603175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGAP29 were set to ",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:56:21.564744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGAP29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:56:03.920559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip with or without cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:55:35.969471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP29 as ready",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:55:35.958057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap29 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:55:29.027860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGAP29 were set to ",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:55:04.194273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGAP29 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:54:49.349837+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGAP29 as Green List (high evidence)",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:54:49.339084+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap29 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:54:22.711732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:51:18.594803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "changed review comment from: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.\r\n\r\nWell established gene-disease association.\r\n\r\nMarshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. Atrial septal defect; to: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.\r\n\r\nWell established gene-disease association.\r\n\r\nMarshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. ",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:45:10.946592+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:28:35.009293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11063730, 11829139, 14695530; Phenotypes: Sialidosis, type I, type II (MIM#256550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:27:21.088759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:27:16.349515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10089",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:23:24.816770+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.106",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MCIDAS was added\ngene: MCIDAS was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCIDAS were set to 32802948; 30237576\nPhenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695\nReview for gene: MCIDAS was set to GREEN\nAdded comment: Gene associated with primary ciliary dyskinesia. Hydrocephalus also a reported finding.\r\n\r\nPMID 32802948 - Retrospective cohort study for 7 consecutive patients from 3 unrelated families diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1 diagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B\r\n\r\nPMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging. \nSources: Literature",
"entity_name": "MCIDAS",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:11:57.780580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MCIDAS was added\ngene: MCIDAS was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCIDAS were set to 32802948; 25048963; 30237576\nPhenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695\nReview for gene: MCIDAS was set to GREEN\nAdded comment: PMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging.\r\n\r\nPMID 25048963 - 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition.\r\n\r\nPMID 32802948 - Retrospective cohort study for 7 consecutive patients diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1\r\ndiagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B. \nSources: Literature",
"entity_name": "MCIDAS",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:10:16.295560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10089",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10205266, 15286166, 15448617, 21681855, 22312188, 22550389, 22876138; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GJA3",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:06:08.481423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577405, 20691405, 25529316; Phenotypes: Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NECTIN4",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:05:17.987392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GJA3",
"entity_type": "gene"
},
{
"created": "2021-12-06T12:03:24.552648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10089",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:55:05.423002+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:52:36.938622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:49:18.793762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: GAS2L2 was added\ngene: GAS2L2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAS2L2 were set to 30665704\nPhenotypes for gene: GAS2L2 were set to ?Ciliary dyskinesia, primary, 41 - OMIM#618449\nReview for gene: GAS2L2 was set to RED\nAdded comment: Two families with PCD and functional evidence. No mention of heterotaxy or phenotype that can be ascertained antenatally. \nSources: Literature",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:48:31.150916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10089",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MEIOB as Green List (high evidence)",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:48:31.140375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10089",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: meiob has been classified as Green List (High Evidence).",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:48:08.450853+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MEIOB as ready",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:48:08.441653+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: meiob has been classified as Amber List (Moderate Evidence).",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:47:16.657625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 20301469; Phenotypes: Fabry disease MIM#301500, Fabry disease, cardiac variant MIM#301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:47:16.510103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10088",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MEIOB was added\ngene: MEIOB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEIOB were set to 34794894; 24068956; 31000419; 28206990\nPhenotypes for gene: MEIOB were set to Spermatogenic failure 22 MIM#617706; primary ovarian insufficiency\nReview for gene: MEIOB was set to GREEN\nAdded comment: At least 6 cases in 3 families, plus a mouse model for spermatogenic failure. A single family and a mouse model for POI.\r\nPMID: 28206990 - 4 infertile brothers with a homozygous missense variant.\r\nPMID: 32741963 - 2 unrelated males with complete spermatocytic arrest and homozygous truncating variants.\r\nPMID: 24068956 - infertile male and female null mouse model.\r\nPMID: 31000419 - Single family with a homozygous splicing variant in 2 sisters with POI. \nSources: Literature",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:46:16.754248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 27789416, 29955634, 26073778; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800), bone fragility, developmental delay, immunodeficiency, autism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:44:02.663254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DNAJB13 was added\ngene: DNAJB13 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJB13 were set to 31342671; 27486783\nPhenotypes for gene: DNAJB13 were set to Primary ciliary dyskinesia\nReview for gene: DNAJB13 was set to RED\nAdded comment: Two families reported with PCD phenotype, but no mention of heterotaxy. \nSources: Literature",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:40:57.127831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DNAH8 was added\ngene: DNAH8 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DNAH8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH8 were set to 31178125; 24307375; 32619401; 32681648\nPhenotypes for gene: DNAH8 were set to Spermatogenic failure 46 - OMIM# 619095; primary ciliary dyskinesia\nReview for gene: DNAH8 was set to RED\nAdded comment: Associated with male infertility, primary ciliary dyskinesia - no fetal phenotype reported \nSources: Literature",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:39:40.966492+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MEIOB as Amber List (moderate evidence)",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:39:40.955952+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: meiob has been classified as Amber List (Moderate Evidence).",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:38:14.460317+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MEIOB was added\ngene: MEIOB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEIOB were set to 34794894; 24068956; 31000419\nPhenotypes for gene: MEIOB were set to Primary ovarian insufficiency\nReview for gene: MEIOB was set to AMBER\nAdded comment: Single family with a homozygous splicing variant in 2 affected sisters. Female null mouse model is infertile. \nSources: Literature",
"entity_name": "MEIOB",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:36:22.424128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10087",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:35:45.567866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: BRWD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33389130; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:34:30.619873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:33:25.052929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DNAH6 was added\ngene: DNAH6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH6 were set to 26918822\nPhenotypes for gene: DNAH6 were set to heterotaxy; azoospermia\nReview for gene: DNAH6 was set to AMBER\nAdded comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.\r\n\r\nSummary: 1 convincing patient with animal model \nSources: Literature",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:31:15.787726+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:30:20.631963+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DNAH1 was added\ngene: DNAH1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH1 were set to 25927852; 31507630\nPhenotypes for gene: DNAH1 were set to Situs inversus; primary ciliary dyskinesia; infertility\nReview for gene: DNAH1 was set to AMBER\nAdded comment: PMID - 25927852 x2 siblings from consanguineous Saudi family with homozygous missense variants (p.Lys1154Gln). More detailed clinical information available for proband diagnosed with Kartagener syndrome - chronic respiratory infections, situs inversus and infertility. Sister also reported to have been diagnosed with Kartagener syndrome at a similar age but no additional clinical information provided.\r\n\r\nPMID: 31765523 - 1 patient with PCD with a single het missense.\r\n\r\nPMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. Microscopy of sperm revealed dynein disorganization\r\n\r\nPMID: 31507630 - 1 chet patient with kartagener syndrome, a subtype of PCD. Variants were classified as VUS initially - now c.442C>T (p.Arg148Cys) remains VUS, c.3103C > T p.R1035C re-classified as likely benign. Additional patient was het for a single nonsense, authors acknowledge missed 2nd hit and that this alone was not causative.\r\n\r\nCurrently listed as red gene in Heterotaxy panel \nSources: Literature",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:27:37.113344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 2246863, 1634607; Phenotypes: Glycine encephalopathy (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:20:25.304803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885, 15994174, 20685856, 30629636, 30583238; Phenotypes: Culler-Jones syndrome, MIM#615849, Holoprosencephaly 9, MIM# 61082); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:12:55.591525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506490, 29460469; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684, Menke-Hennekam syndrome , MIM#2 618333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:06:08.886768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HELQ as ready",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:06:08.872209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: helq has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:05:21.972975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:05:03.138198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: HELQ: A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition.",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T11:02:19.901271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CFAP74 was added\ngene: CFAP74 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP74 were set to 32555313\nPhenotypes for gene: CFAP74 were set to infertility; primary ciliary dyskinesia\nReview for gene: CFAP74 was set to RED\nAdded comment: Compound het missense variants identified in 2 unrelated patients presenting with male infertility, chronic bronchiectasis and frequent sinusitis. \nSources: Literature",
"entity_name": "CFAP74",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:59:32.469098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27213289; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:59:21.112544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HELQ as Amber List (moderate evidence)",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:59:21.101767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: helq has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:58:59.918383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10086",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HELQ was added\ngene: HELQ was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HELQ were set to 34794894; 24005329; 33095795\nPhenotypes for gene: HELQ were set to Primary ovarian insufficiency\nReview for gene: HELQ was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:56:08.064463+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HELQ as ready",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:56:08.055640+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: helq has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:56:02.219341+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HELQ as Amber List (moderate evidence)",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:56:02.188989+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: helq has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:55:52.037962+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HELQ was added\ngene: HELQ was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HELQ were set to 34794894; 24005329; 33095795\nPhenotypes for gene: HELQ were set to Primary ovarian insufficiency\nReview for gene: HELQ was set to AMBER\nAdded comment: A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition. \nSources: Literature",
"entity_name": "HELQ",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:50:05.200458+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CFAP57 was added\ngene: CFAP57 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CFAP57 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CFAP57 were set to 21574244; 32764743\nPhenotypes for gene: CFAP57 were set to Van der Woude syndrome; primary ciliary dyskinesia like\nReview for gene: CFAP57 was set to RED\nAdded comment: Homozygous nonsense variants identified in a 38-year-old male with PCD phenotype (history of neonatal respiratory distress, otitis media, sinusitis and bronchiectasis)\r\n\r\nx1 Het VUS reported in an individual with van der Woude syndrome - reviewed ClinVar - remains classified as VUS \nSources: Literature",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:48:01.343564+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FANCL were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:47:47.676034+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:47:38.976572+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FANCL as Amber List (moderate evidence)",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:47:38.966968+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fancl has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:47:14.277359+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FANCL: Changed publications: 32048394, 32851770, 11823446, 33095795, 34794894; Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group L MIM#614083; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:45:55.485593+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. However, there is no reported evidence of POI in female carriers of FANCL pathogenic variants for fanconi anemia. Null mouse model is less fertile and has defective proliferation of germ cells. \nSources: Literature; to: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. Also, homozygous frameshift insertion identified in a POI case without any known features of fanconi anaemia. Null mouse model is less fertile and has defective proliferation of germ cells. \r\nSources: Literature",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:39:19.611881+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 23749988, 24075186; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266), Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:35:18.447653+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:35:18.437634+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fancc has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:35:13.966597+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FANCC as Amber List (moderate evidence)",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:35:13.955917+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fancc has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:35:04.768372+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.250",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCC were set to 34794894; 8630504\nPhenotypes for gene: FANCC were set to Fanconi anemia, complementation group C MIM#227645\nReview for gene: FANCC was set to AMBER\nAdded comment: Hypergonadotropic hypogonadism is listed as a genitourinary feature of the condition. A null mouse model has compromised gametogenesis. \nSources: Literature",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:33:56.132195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CFAP43 was added\ngene: CFAP43 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CFAP43 were set to 31884020; 28552195; 31004071; 29449551\nPhenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592\nReview for gene: CFAP43 was set to RED\nAdded comment: Associated with infertility. Only adult-onset hydrocephalus reported. \nSources: Literature",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:25:42.455730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.957",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: None; Publications: 16267323, 21353613, 33150193; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:24:08.030628+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group A MIM#227650",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:23:56.820143+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.248",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:23:34.004525+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.\r\nPMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)\r\nPMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging\r\nPMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility \nSources: Literature; to: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.\r\nPMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)\r\nPMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging\r\nPMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility\r\nHypergonadotropic hypogonadism is listed as an endocrine feature of the Fanconi anaemia phenotype in OMIM. \r\nSources: Literature",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:21:43.890611+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FANCA: Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group A MIM#227650; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:18:40.349424+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-06T10:18:40.331435+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.247",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fanca has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
}
]
}