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{
"count": 220482,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=968",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=966",
"results": [
{
"created": "2022-02-25T08:43:36.298015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nodal has been classified as Red List (Low Evidence).",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:43:32.234750+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NODAL were changed from HETEROTAXY SYNDROME to Heterotaxy, visceral, 5 (MIM#270100)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:43:19.410902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NODAL were set to ",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:43:06.467833+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:42:10.023533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:42:09.995700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:40:42.023871+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1B as ready",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:40:42.012417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Green List (High Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:37:19.426996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD50 as ready",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:37:19.416246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:36:13.859038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRA10AC1 as ready",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:36:13.848582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:29:41.009599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4200",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ATN1 was added\ngene: ATN1 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATN1 were set to 34212383; 30827498\nPhenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - MIM#618494\nReview for gene: ATN1 was set to GREEN\nAdded comment: Monoallelic variants associated with syndromic ID. Phenotypic features include arthrogryposis, epilepsy and congenital malformations of the brain, heart, and genitourinary systems. \nSources: Literature, Expert list",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:16:13.385556+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNA2 as ready",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:16:13.372222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Green List (High Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:15:44.991779+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome (no OMIM# yet) to Cornelia de Lange syndrome, MONDO:0016033",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:15:19.192584+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome to Cornelia de Lange-like syndrome, MONDO:0016033",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:14:33.914159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:14:04.261085+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:13:07.150780+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRD4 as ready",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:13:07.134947+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brd4 has been classified as Green List (High Evidence).",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:13:03.384278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome (no OMIM# yet) to Cornelia de Lange syndrome, MONDO:0016033",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:11:47.645595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299",
"entity_name": "BRD4",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:11:11.904186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R12A as ready",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:11:11.894872+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Green List (High Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:09:47.095137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MNS1 as ready",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:09:47.085346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mns1 has been classified as Green List (High Evidence).",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:09:16.220064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP52 as ready",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:09:16.200767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap52 has been classified as Green List (High Evidence).",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:08:49.418867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP45 as ready",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:08:49.406901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap45 has been classified as Green List (High Evidence).",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:08:00.421298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:08:00.407759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:07:19.198410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOST.",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:06:49.447462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOST.",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:05:46.639480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOX3.",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:02:30.062948+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASGRP2 as ready",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:02:30.045419+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp2 has been classified as Red List (Low Evidence).",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:01:58.568794+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASGRP2 were changed from to Bleeding disorder, platelet-type, 18 - MIM#615888; Osteopetrosis (disease) MONDO:0017198",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:00:50.837608+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RASGRP2 were set to ",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T08:00:22.893802+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RASGRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:59:51.998165+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASGRP2 as Red List (low evidence)",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:59:51.986047+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp2 has been classified as Red List (Low Evidence).",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:59:17.925477+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: None; Publications: 18709451; Phenotypes: Osteopetrosis (disease) MONDO:0017198; Mode of inheritance: None",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:55:36.501635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASGRP2 as ready",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:55:36.489912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp2 has been classified as Red List (Low Evidence).",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:55:33.089058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 - MIM#615888 to Bleeding disorder, platelet-type, 18 - MIM#615888",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:55:18.399466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASGRP2 as Red List (low evidence)",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:55:18.389439+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp2 has been classified as Red List (Low Evidence).",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:54:45.133445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG14 as ready",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:54:45.109437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:54:40.312749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:54:22.891703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG14 as Green List (high evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:54:22.879102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:54:09.649924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:51:57.293783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHM1 as ready",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:51:57.284607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhm1 has been classified as Red List (Low Evidence).",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:51:53.433000+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHM1 were changed from ?Osteopetrosis, autosomal recessive 6 - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107 to Osteopetrosis, autosomal recessive 6 - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:51:37.890982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHM1 as Red List (low evidence)",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-02-25T07:51:37.874983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhm1 has been classified as Red List (Low Evidence).",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2022-02-24T21:16:29.208549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4192",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SEMA3E was added\ngene: SEMA3E was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA3E were set to 31691538; 31464029; 15235037\nPhenotypes for gene: SEMA3E were set to ?CHARGE syndrome - MIM#214800\nReview for gene: SEMA3E was set to AMBER\nAdded comment: Heterozygous variant identified in a fetus given a clinical diagnosis of CHARGE syndrome.\r\nOne individual with a translocation and one individual with a missense variant reported in 2004; some functional data. \nSources: Literature",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2022-02-24T20:34:14.457719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4192",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TMEM53 was added\ngene: TMEM53 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM53 were set to 33824347\nPhenotypes for gene: TMEM53 were set to Craniotubular dysplasia, Ikegawa type - MIM#619727\nReview for gene: TMEM53 was set to RED\nAdded comment: 33824347 Guo et al 2021 report 5 individuals from 4 unrelated Indian families with a sclerosing bone disorder. Authors report normal prenatal and early postnatal development. \nSources: Literature",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-24T20:27:36.036548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4192",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SGMS2 was added\ngene: SGMS2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SGMS2 were set to 34236445; 32028018; 30779713; 34761145; 34504906\nPhenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia - MIM#126550\nReview for gene: SGMS2 was set to RED\nAdded comment: Heterozygous variants in SGMS2 associated with childhood-onset osteoporosis and skeletal\r\ndysplasia. Evidence suggests that some heterozygous missense variants have a dominant negative effect and lead to severe bone fragility and spondylometaphyseal dysplasia, while one recurrent nonsense variant (c.148C > T, p.Arg50*) has been associated with milder bone fragility with or without cranial sclerosis (cranial doughnut lesions). No antenatal features reported in published cases including growth parameters.\r\n\r\n---\r\n\r\n\r\nPMID 32028018 Robinson et al 2020 - provide phenotypic information for 2 unrelated individuals with c.148C > T, p.Arg50* variant. No antenatal history reported.\r\n\r\nPMID: 30779713 Pekkinen et al 2019 - identified heterozygous SGMS2 variants in 13 individuals from 6 unrelated families with early-onset osteoporosis and skeletal dysplasia. Identified recurrent nonsense variant in 4 families ( p.Arg50*) presented with childhood-onset osteoporosis with or without cranial sclerosis. 2 families had p.Ile62Ser or p.Met64Arg and. more severe phenotype including with neonatal fracture (clavicular fracture at birth), severe short stature, and spondylometaphyseal dysplasia. No antenatal phenotype/birth growth parameters provided.\r\n\r\nPMID: 34761145 Makitie et al 2021 - further examination of bone changes in two individuals already reported in Pekkinen et al 2019 paper with recurrent nonsense variant.\r\n\r\nPMID: 34504906 Basalom et al 2021 - no antenatal features reported \nSources: Literature",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:38:58.336271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4192",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UBA2 as Green List (high evidence)",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:38:58.326261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4192",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Green List (High Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:38:42.856412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4191",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: UBA2 was added\ngene: UBA2 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBA2 were set to PMID: 31332306; 31587267\nPhenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly\nReview for gene: UBA2 was set to GREEN\nAdded comment: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available.\r\n\r\n1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing\r\n\r\nPMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC. \nSources: Expert list",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:29:45.906512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4190",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCNN1B as Green List (high evidence)",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:29:45.895311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4190",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scnn1b has been classified as Green List (High Evidence).",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:29:33.623310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4189",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SCNN1B was added\ngene: SCNN1B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCNN1B were set to PubMed: 8589714\nPhenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I - MIM#264350\nReview for gene: SCNN1B was set to GREEN\nAdded comment: Autosomal recessive pseudohypoaldosteronism type I caused by homozygous or compound heterozygous mutation in SCNN1B is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Multiple patients reported. \nSources: Literature",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:26:35.026117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCNN1A as Green List (high evidence)",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:26:35.007897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scnn1a has been classified as Green List (High Evidence).",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:26:24.048408+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4187",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SCNN1A was added\ngene: SCNN1A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCNN1A were set to PubMed: 8589714, 31301676\nPhenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I - MIM#264350\nReview for gene: SCNN1A was set to GREEN\nAdded comment: Autosomal recessive pseudohypoaldosteronism type I caused by homozygous or compound heterozygous mutation in SCNN1A is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Multiple patients reported. \nSources: Literature",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:22:10.708219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4186",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SCNN1G as Green List (high evidence)",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:22:10.695451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4186",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Green List (High Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:15:12.899062+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PAM16 as Green List (high evidence)",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:15:12.885212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pam16 has been classified as Green List (High Evidence).",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:15:01.990954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PAM16 was added\ngene: PAM16 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAM16 were set to PubMed: 24786642, 27354339\nPhenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM #\t613320\nReview for gene: PAM16 was set to GREEN\nAdded comment: Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia (SMDMDM) has chondrodysplasia, developmental delay, severe pre- and postnatal short stature, dysmorphic facial appearance, narrow chest, prominent abdomen, and short limbs. 5 patients from 3 unrelated families with homozygous missense mutations which segregate with disease. \nSources: Expert list",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:10:56.533409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4183",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NME8 as Green List (high evidence)",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:10:56.519648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4183",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nme8 has been classified as Green List (High Evidence).",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:10:39.232752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4182",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NME8 was added\ngene: NME8 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NME8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NME8 were set to PubMed: 12032915, 12483741, 12928894\nPhenotypes for gene: NME8 were set to CINCA syndrome, OMIM # 607115\nReview for gene: NME8 was set to GREEN\nAdded comment: Chronic infantile neurologic cutaneous and articular (CINCA) syndrome also known as 'neonatal onset multisystem inflammatory disease,' or NOMID, is a rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. 14 families with heterozygous missense mutations in exon 3. Presenting perinatally so suitable for fetal anomalies panel. \nSources: Literature",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:02:23.731246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MIA3 as Amber List (moderate evidence)",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:02:23.717073+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4181",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mia3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2022-02-24T17:02:11.499762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4180",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MIA3 was added\ngene: MIA3 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIA3 were set to PMID: 32101163, 33778321\nPhenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269\nReview for gene: MIA3 was set to AMBER\nAdded comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization. Can present with IUGR antenatally. Suitable for fetal anomalies panel. \nSources: Expert list",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:59:22.471286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4179",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MBTPS1 as Green List (high evidence)",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:59:22.453708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4179",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:59:08.057011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4178",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MBTPS1 was added\ngene: MBTPS1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to PMID: 32857899; 32420688; 30046013\nPhenotypes for gene: MBTPS1 were set to Skeletal dysplasia, no OMIM #\nReview for gene: MBTPS1 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. \nSources: Expert list",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:51:55.747865+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Amber List (moderate evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:51:55.736670+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:51:40.476657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4176",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HOXA11 was added\ngene: HOXA11 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXA11 were set to PubMed: 11101832\nPhenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 , OMIM #605432\nReview for gene: HOXA11 was set to AMBER\nAdded comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. A heterozygous mutation in the HOXA11 gene was found in affected members of 2 families segregating radioulnar synostosis and amegakaryocytic thrombocytopenia. \nSources: Literature",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:37:30.507920+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GDF3 as Green List (high evidence)",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:37:30.494581+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gdf3 has been classified as Green List (High Evidence).",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:36:22.678466+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GDF3 was added\ngene: GDF3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list\nMode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDF3 were set to PubMed: 19864492\nPhenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704\nReview for gene: GDF3 was set to GREEN\nAdded comment: Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia. \nSources: Expert list",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:35:33.651618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4175",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GDF3 as Green List (high evidence)",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:35:33.640559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4175",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gdf3 has been classified as Green List (High Evidence).",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:35:11.175170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4174",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GDF3 was added\ngene: GDF3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDF3 were set to PubMed: 19864492\nPhenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704\nReview for gene: GDF3 was set to GREEN\nAdded comment: Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia. \nSources: Literature",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:22:56.327830+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4173",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: COL27A1 as Green List (high evidence)",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:22:56.315706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4173",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: col27a1 has been classified as Green List (High Evidence).",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:22:30.483294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4172",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: COL27A1 was added\ngene: COL27A1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL27A1 were set to PubMed: 24986830, 28276056, 28322503\nPhenotypes for gene: COL27A1 were set to Steel syndrome, OMIM #615155\nReview for gene: COL27A1 was set to GREEN\nAdded comment: Steel syndrome is characterized by characteristic facies, congenital dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. 3 families with biallelic variants reported. \nSources: Literature",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:19:04.896339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4171",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CHST11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CHST11",
"entity_type": "gene"
},
{
"created": "2022-02-24T16:18:04.717738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4171",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CHST11",
"entity_type": "gene"
}
]
}