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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1174",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1172",
"results": [
{
"created": "2021-10-24T17:53:21.576535+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPS22 was added\ngene: MRPS22 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS22 were set to 28425981\nPhenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:21.360106+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:21.063319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPDU1 was added\ngene: MPDU1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:20.851268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS2 was added\ngene: MOCS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:20.565054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS1 was added\ngene: MOCS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:20.146261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MNX1 was added\ngene: MNX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MNX1 were set to CURRARINO SYNDROME",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:19.861907+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMP21 was added\ngene: MMP21 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMP21 were set to MMP21-associated heterotaxy",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:19.649316+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMP13 was added\ngene: MMP13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE; METAPHYSEAL ANADYSPLASIA TYPE 1",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:19.365258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:19.153472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:18.871293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLYCD was added\ngene: MLYCD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:18.449338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLC1 was added\ngene: MLC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:18.163943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1; BARDET-BIEDL SYNDROME TYPE 13",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:17.950828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to BARDET-BIEDL SYNDROME TYPE 6; MCKUSICK-KAUFMAN SYNDROME",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:17.673807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MID1 was added\ngene: MID1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:17.455673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGP was added\ngene: MGP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to KEUTEL SYNDROME",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:17.173008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD2A was added\ngene: MFSD2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD2A were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:16.959283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFRP was added\ngene: MFRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFRP were set to MICROPHTHALMIA ISOLATED TYPE 5; NANOPHTHALMOS 2",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:16.676631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESP2 was added\ngene: MESP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:16.465704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEGF8 was added\ngene: MEGF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF8 were set to CARPENTER SYNDROME",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:16.254036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEGF10 was added\ngene: MEGF10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:15.972462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEF2C was added\ngene: MEF2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:15.756230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to LUJAN-FRYNS SYNDROME; OPITZ-KAVEGGIA SYNDROME",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:15.266122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCPH1 was added\ngene: MCPH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:15.052056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCOLN1 was added\ngene: MCOLN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:14.769984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:14.556970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MATN3 was added\ngene: MATN3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:14.273125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MASP1 was added\ngene: MASP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MASP1 were set to 3MC SYNDROME 1",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:14.059449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPRE2 was added\ngene: MAPRE2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAPRE2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MAPRE2 were set to 31903734; 31502381; 26637975\nPhenotypes for gene: MAPRE2 were set to Symmetric circumferential skin creases, congenital, 2, 616734",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:13.849949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP3K1 was added\ngene: MAP3K1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:13.364748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:13.156734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:12.874419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGEL2 was added\ngene: MAGEL2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: MAGEL2 were set to 26365340; 27195816\nPhenotypes for gene: MAGEL2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547; Schaaf-Yang syndrome",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:12.658875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAFB was added\ngene: MAFB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:12.450093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAF was added\ngene: MAF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAF were set to CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:12.165539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAB21L2 was added\ngene: MAB21L2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:11.750464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LZTR1 were set to Noonan syndrome 10, 616564; Fetal hydrops",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:11.464581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LZTFL1 was added\ngene: LZTFL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 615994",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:11.256836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:10.962249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP4 was added\ngene: LTBP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC 613177",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:10.753992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP3 was added\ngene: LTBP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:10.472839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRC6 was added\ngene: LRRC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:10.260246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT; ENDOSTEAL HYPEROSTOSIS WORTH TYPE; VITREORETINOPATHY EXUDATIVE TYPE 4; OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:10.051387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP4 was added\ngene: LRP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:09.564647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to DONNAI-BARROW SYNDROME",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:09.356326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:09.148931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMOD3 was added\ngene: LMOD3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy 616165",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:08.869573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LMNA were set to LETHAL TIGHT SKIN CONTRACTURE SYNDROME; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; HUTCHINSON-GILFORD PROGERIA SYNDROME; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE; CARDIOMYOPATHY DILATED TYPE 1A; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:08.658036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:08.451615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBR1 was added\ngene: LMBR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LMBR1 were set to Acheiropody 200500; Triphalangeal thumb, type I 174500; Laurin-Sandrow syndrome 135750; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly 188740; Polydactyly, preaxial type II 174500; Syndactyly, type IV 186200",
"entity_name": "LMBR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:08.172519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPA were set to 12666227\nPhenotypes for gene: LIPA were set to Wolman disease, 278000; Fetal hydrops; Lysosomal Acid Lipase Deficiency",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:07.756633+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIG4 were set to SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:07.545207+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:07.262542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX4 was added\ngene: LHX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:07.054915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:06.774925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LGI4 was added\ngene: LGI4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:06.562035+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LFNG was added\ngene: LFNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:06.348523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LBR was added\ngene: LBR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:05.861332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARP7 was added\ngene: LARP7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARP7 were set to ALAZAMI SYNDROME",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:05.653013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARGE1 was added\ngene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:05.377915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC3 was added\ngene: LAMC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:05.166165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:04.959943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:04.687643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:04.464469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: L1CAM were set to 30712878; 28425981\nPhenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME; PARTIAL AGENESIS OF THE CORPUS CALLOSUM; HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS; SPASTIC PARAPLEGIA X-LINKED TYPE 1",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:04.056999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KYNU was added\ngene: KYNU was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KYNU were set to 28792876\nPhenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2 617661",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:03.851367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRIT1 was added\ngene: KRIT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRIT1 were set to 28749478\nPhenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:03.574269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KRAS were set to NOONAN SYNDROME TYPE 3; CARDIOFACIOCUTANEOUS SYNDROME",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:03.381401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT2D were set to KABUKI SYNDROME",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:03.153500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2C was added\ngene: KMT2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KMT2C were set to 29276005; 22726846\nPhenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY; Kleefstra syndrome 2 617768",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:02.875992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2A was added\ngene: KMT2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, OMIM:605130",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:02.661156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL41 was added\ngene: KLHL41 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL41 were set to Nemaline myopathy 615731",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:02.450098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL40 was added\ngene: KLHL40 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:01.958600+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF1 was added\ngene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KLF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KLF1 were set to 28361594; 25724378\nPhenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis\nMode of pathogenicity for gene: KLF1 was set to Other",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:01.682713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; ACROCALLOSAL SYNDROME",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:01.459736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF22 was added\ngene: KIF22 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:01.172918+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1BP was added\ngene: KIF1BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:00.881635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1A were set to NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:00.682735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF11 was added\ngene: KIF11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:00.463980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA1109 was added\ngene: KIAA1109 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1109 were set to 28749478; 30485398; 29290337\nPhenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:00.191794+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:59.749238+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: KDM6A were set to KABUKI SYNDROME 2",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:59.473839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:59.264506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD1 was added\ngene: KCTD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:59.059529+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNJ2 were set to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:58.850707+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome 241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:58.579797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KAT6B were set to GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:58.372276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT6A was added\ngene: KAT6A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:58.160217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KANSL1 was added\ngene: KANSL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:57.956593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: JAG1 were set to ALAGILLE SYNDROME",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:57.751011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:57.272597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA6 was added\ngene: ITGA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:57.061776+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA3 was added\ngene: ITGA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:56.862531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISPD was added\ngene: ISPD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:56.649068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF6 was added\ngene: IRF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME; POPLITEAL PTERYGIUM SYNDROME",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:56.376774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCB1 was added\ngene: IQCB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 609254",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:56.169520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2 602088",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:55.956415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INTU was added\ngene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTU were set to 28289185; 29451301; 30266093\nPhenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:55.752559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INSR were set to DONOHUE SYNDROME 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549; Hyperinsulinemic hypoglycemia, familial, 5 609968; Rabson-Mendenhall syndrome 262190",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:52:55.472725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPPL1 was added\ngene: INPPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA",
"entity_name": "INPPL1",
"entity_type": "gene"
}
]
}