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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1044",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1042",
"results": [
{
"created": "2022-01-17T12:19:21.270958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:19:08.860139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to ",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:18:54.856832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:18:45.453392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EEF1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:18:36.297342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EEF1A2 as Red List (low evidence)",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:18:36.287483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1a2 has been classified as Red List (Low Evidence).",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:18:24.848887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 32160274 - Davies et al 2020 - several reports of de novo missense mutations in EEF1A2 associated with neurodevelopmental disorders but no clear loss of function mutations. They created mice with a missense mutation in EEF1A2 (D252H) in both heterozygous and homozygous state and EEF1A2 null mutant mice and analysed using behavioural and motor phenotyping alongside molecular modelling and analysis of binding partners. They found the D252H homozygous mice were more severely affected than null homozygotes on the same genetic background. The results suggest that the D252H mutation results in a gain of function.; to: PMID: 32160274 - Davies et al 2020 - several reports of de novo missense mutations in EEF1A2 associated with neurodevelopmental disorders but no clear loss of function mutations. They created mice with a missense mutation in EEF1A2 (D252H) in both heterozygous and homozygous state and EEF1A2 null mutant mice and analysed using behavioural and motor phenotyping alongside molecular modelling and analysis of binding partners. They found the D252H homozygous mice were more severely affected than null homozygotes on the same genetic background. The results suggest that the D252H mutation results in a gain of function.\r\n\r\nHowever, presentation is typically post-natal.",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:18:07.633015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1A2: Changed rating: RED",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:17:19.658567+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EED as ready",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:17:19.649082+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eed has been classified as Green List (High Evidence).",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:17:12.645084+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EED were set to ",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:17:01.424212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EED was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:16:52.397803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EED as Green List (high evidence)",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:16:52.387098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eed has been classified as Green List (High Evidence).",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:16:02.648181+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DRC1 as ready",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:16:02.637226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: drc1 has been classified as Red List (Low Evidence).",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:15:58.093498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRC1 were changed from PRIMARY CILARY DYSKINEASIA to Ciliary dyskinesia, primary, 21, MIM# 615294",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:15:41.986038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DRC1 were set to ",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:15:27.776574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DRC1 as Red List (low evidence)",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:15:27.760741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: drc1 has been classified as Red List (Low Evidence).",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:14:53.182311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPM3 as ready",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:14:53.171923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm3 has been classified as Red List (Low Evidence).",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:14:49.281125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPM3 were changed from ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 to Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:14:37.996443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM3 were set to ",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:14:25.926608+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPM3 as Red List (low evidence)",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:14:25.914948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm3 has been classified as Red List (Low Evidence).",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:14:15.588628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Most affected individuals reported to date have not had ID.; to: Most affected individuals reported to date have not had ID. Predominantly limb-girdle weakness with onset in later childhood or adulthood.",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:13:42.198126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MDH2: Rating: RED; Mode of pathogenicity: None; Publications: 27989324, 34766628; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:13:07.967057+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.168",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: FOXH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18538293, 19933292, 32003456, 12094232, 16304598; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:12:29.880636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPM2 as ready",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:12:29.865887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm2 has been classified as Green List (High Evidence).",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:12:25.735413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM2 were set to ",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:12:14.770338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPM2 as Green List (high evidence)",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:12:14.759671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm2 has been classified as Green List (High Evidence).",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:12:03.698842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 3 patients from 2 families reported.; to: 3 patients from 2 families reported.\r\n\r\nCongenital contractures.",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:12:00.724873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34766628, 27989324; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:11:32.255675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2320",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: FOXH1: Added comment: No OMIM gene disease association. Overall, evidence for this gene and its association with congenital heart disease is conflicting. \r\n\r\nRoessler et al 2008 PMID 18538293\r\nPilot consortium study of 375 unrelated individuals prospectively ascertained with cardiovascular malformations. Patients not seen at NIH and parents/siblings not consented. Therefore only samples from proband collected. Also screened 300-500 patients with holoprosencephaly and 125 unrelated controls. Over 60 heterozygous FOXH1 variants reported in patients with congenital heart disease or holoprosencephaly. The majority of reported variants were of questionable pathogenicity as they were present in gnomad, had variants present in gnomad with alternative amino acid changes at the same position, had limited evidence of effect on FOXH1 functional activity or were synonymous variants. Furthermore, no variant segregation data available. \r\n\r\nDe Luca et al 2009 PMID 19933292\r\nFOXH1 (Pro21Ser) missense variant identified. Not present in gnomad but in area of low coverage, alternative aa change reported in the same location in x1 het. Identified in proband with TGA and x2 other unaffected family members. Proband who was also heterozogous for an amino acid substitution (Gly17Cys) in the ZIC3 gene\r\n\r\nWei et al 2020 Clinical Genetics PMID 32003456\r\nExome sequencing performed in 605 patients with sporadic conotruncal defects and 300 controls in patients of Chinese descent with ages ranging from 6 days to 12 years old, majority <2 years old. 14 gene panel used. Identified 7 FOXH1 missense variants in 10 unrelated patients with congenital heart disease. All reported variants associated with reduced protein expression of FOXH1 protein on Western blot to varying degrees. No segregation data provided. \r\n•\tFOXH1 c.104C>G p.P35R identified in a 9 month old with double outlet right ventricle. Absent from gnomad but is in an area of low exome coverage. Variant with alternative amino acid change at same position (FOXH1 c.104C>T p.P35L) previously identified in a patient with congenital heart disease (Roessler et al 2008)\r\n•\tX2 patients - FOXH1 c.205T>C p.Phe69Leu. Also present in gnomad – x1 het non-Finnish European. X1 patient with alternative amino acid change at same position also identified (FOXH1 c.206T>C p.Phe69Ser) – absent from gnomad. \r\n•\tX2 patients with FOXH1 c.209T>C p.Phe70Ser - absent from gnomad\r\n•\tX2 patients with FOXH1 c.232A>G p.Lys78Glu – x2 hets gnomad (European non-Finnish, South Asian)\r\n•\tX1 patient with FOXH1 c.277A>G p.Lys93Glu – x1 het gnomad (European Finnish)\r\n•\tX1 patients FOXH1 c.277A>G p.Glu165Gln – absent from gnomad, benign in silicos\r\n\r\nPMID 12094232, PMID 16304598 - Previous mouse models have demonstrated a role for Foxh1 in heart morphogenesis.; Changed rating: AMBER; Changed publications: 18538293, 19933292, 32003456, 12094232, 16304598; Changed phenotypes: Congenital heart disease",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:10:53.869844+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPH1 as ready",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:10:53.859736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph1 has been classified as Green List (High Evidence).",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:10:47.079135+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPH1 as Green List (high evidence)",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:10:47.066216+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph1 has been classified as Green List (High Evidence).",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:10:10.251646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DONSON as ready",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:10:10.241863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: donson has been classified as Green List (High Evidence).",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:10:04.446087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DONSON were changed from Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:09:49.020518+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DONSON were set to ",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:09:36.314385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DONSON as Green List (high evidence)",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:09:36.303405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: donson has been classified as Green List (High Evidence).",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:08:29.769673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK7 as ready",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:08:29.747482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock7 has been classified as Green List (High Evidence).",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:01:59.145319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:59:47.041684+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2316",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 20 families with ID and seizures as main features\r\nmicrocephaly reported though OFC at birth are largely unknown\r\nlow birth weight (>-3SD) reported in 1 family; to: > 20 families with ID and seizures as main features\r\nmicrocephaly reported though OFC at birth are largely unknown\r\nlow birth weight (>-3SD) reported in 1 family",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:56:05.563242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2316",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:54:41.507957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK7 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 to Developmental and epileptic encephalopathy 23 MIM#615859",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:54:27.822512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK7 were set to ",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:53:57.173138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOCK7 as Green List (high evidence)",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:53:57.160923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock7 has been classified as Green List (High Evidence).",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:53:45.182842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:52:25.040229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:52:25.029093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Red List (Low Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:52:20.977253+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM2 were changed from Lethal congenital contracture syndrome 5, 615368 to Lethal congenital contracture syndrome 5, MIM#615368",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:52:08.276854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:51:51.084797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNM2 as Red List (low evidence)",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:51:51.062665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Red List (Low Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:51:36.523204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease. \nSources: Expert Review; to: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease and generally have onset in childhood or later.\r\nSources: Expert Review",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:50:28.349313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1L as ready",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:50:28.336790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Green List (High Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:50:21.891933+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DNM1L was changed from to Other",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:50:10.088082+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNM1L were set to ",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:49:58.023316+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNM1L as Green List (high evidence)",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:49:58.010892+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Green List (High Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:49:44.486563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Dominant and recessive disease described depending on domain affected; dominant negative effect of heterozygous missense variants. LoF/LoF or LoF/missense for AR variants.; to: Dominant and recessive disease described depending on domain affected; dominant negative effect of heterozygous missense variants. LoF/LoF or LoF/missense for AR variants.\r\n\r\nDecreased fetal movements reported.",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:27:06.798259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2307",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 7560086; Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850, Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850, Disorders of the metabolism of sulphur amino acids; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:22:24.151875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2307",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426734, 27426733; Phenotypes: Cardiospondylocarpofacial syndrome MIM#157800 AD, Frontometaphyseal dysplasia 2 MIM#617137 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2022-01-17T11:17:52.626751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2307",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27816943, 26755636; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion MIM#617760, Split-foot malformation with mesoaxial polydactyly MIM#616890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MAP3K20",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:54:45.695177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye",
"entity_name": "LMBRD2",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:54:14.552541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Intellectual disability",
"entity_name": "LMBRD2",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:53:57.147141+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye",
"entity_name": "LMBRD2",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:53:23.062835+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye",
"entity_name": "LMBRD2",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:52:52.108570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye",
"entity_name": "LMBRD2",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:52:25.727699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye",
"entity_name": "LMBRD2",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:36:52.333502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:36:22.251480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:36:04.553770+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:35:36.577866+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:35:17.483165+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:34:44.896622+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OGDHL: Changed phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701, Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:34:22.413727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:34:00.331853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OGDHL",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:32:51.459599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANAPC7 as ready",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:32:51.450709+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anapc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:32:40.958540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANAPC7 as Amber List (moderate evidence)",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:32:40.949848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anapc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:30:08.768874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANAPC7 was added\ngene: ANAPC7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANAPC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANAPC7 were set to 34942119\nPhenotypes for gene: ANAPC7 were set to Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699\nReview for gene: ANAPC7 was set to AMBER\nAdded comment: 11 individuals of Amish heritage reported homozygous for an intragenic deletion. Clinical features included ID, hypotonia, deafness in 5, relatively small head size (but microcephaly only in 1), and occasional congenital anomalies.\r\n\r\nSupportive mouse model.\r\n\r\nAmber rating in light of this being a founder variant. \nSources: Literature",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:27:39.662503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ANAPC7.\nTag founder tag was added to gene: ANAPC7.",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:27:15.507404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANAPC7 as ready",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:27:15.493240+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anapc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:26:40.624984+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANAPC7 as Amber List (moderate evidence)",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:26:40.613920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anapc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-17T10:25:25.320209+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANAPC7 was added\ngene: ANAPC7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ANAPC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANAPC7 were set to 34942119\nPhenotypes for gene: ANAPC7 were set to Ferguson-Bonni neurodevelopmental syndrome, MIM#\t619699\nReview for gene: ANAPC7 was set to AMBER\nAdded comment: 11 individuals of Amish heritage reported homozygous for an intragenic deletion. Clinical features included ID, hypotonia, deafness in 5, relatively small head size (but microcephaly only in 1), and occasional congenital anomalies.\r\n\r\nSupportive mouse model.\r\n\r\nAmber rating in light of this being a founder variant. \nSources: Literature",
"entity_name": "ANAPC7",
"entity_type": "gene"
},
{
"created": "2022-01-15T21:04:42.445442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2LI1 as ready",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
}
]
}