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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1162",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1160",
"results": [
{
"created": "2021-10-24T18:03:25.757089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS2 was added\ngene: PDSS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:24.949013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHX was added\ngene: PDHX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:24.356018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHB was added\ngene: PDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHB were set to 26865159\nPhenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:23.555444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE6G was added\ngene: PDE6G was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:22.753810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDH19 was added\ngene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCDH19 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: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:22.157164+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCB was added\ngene: PCCB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:21.359873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCA was added\ngene: PCCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:20.759740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCBD1 was added\ngene: PCBD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:19.855549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PC was added\ngene: PC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:18.952203+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX9 was added\ngene: PAX9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3",
"entity_name": "PAX9",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:18.356481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAH was added\ngene: PAH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAH were set to PHENYLKETONURIA; NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:17.554350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OXCT1 was added\ngene: OXCT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:16.956018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTULIN was added\ngene: OTULIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:16.150044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTOGL was added\ngene: OTOGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS",
"entity_name": "OTOGL",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:15.556199+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTC was added\ngene: OTC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:14.753359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NYX was added\ngene: NYX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:13.947545+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTRK1 was added\ngene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:13.353499+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NT5C3A was added\ngene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:12.552032+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NT5C2 was added\ngene: NT5C2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive 613162",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:11.957096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSMF was added\ngene: NSMF was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:11.157356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR2F1 was added\ngene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:10.354384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHS2 was added\ngene: NPHS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:09.753790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NMNAT1 was added\ngene: NMNAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:08.873064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-1 was added\ngene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA; CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:08.347419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NGLY1 was added\ngene: NGLY1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:07.550360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFU1 was added\ngene: NFU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:06.750109+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFV1 was added\ngene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:06.155957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS8 was added\ngene: NDUFS8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:05.351828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS7 was added\ngene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:04.759957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS4 was added\ngene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:03.955395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS1 was added\ngene: NDUFS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:03.364740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA1 was added\ngene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:02.566116+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGS was added\ngene: NAGS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:01.764485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYT1L was added\ngene: MYT1L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MYT1L were set to MYT1L syndrome",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:01.157909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO7A was added\ngene: MYO7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:03:00.359084+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO5B was added\ngene: MYO5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:59.768265+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO5A was added\ngene: MYO5A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5A were set to GRISCELLI SYNDROME TYPE 3; ELEJALDE SYNDROME",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:58.960509+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYBPC2 was added\ngene: MYBPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBPC2 were set to 32732226\nPhenotypes for gene: MYBPC2 were set to Hydrops; Hygroma; Fetal akinesia; Multiple pterygium",
"entity_name": "MYBPC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:58.169747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUT was added\ngene: MUT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:57.652202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TP was added\ngene: MT-TP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL\nPhenotypes for gene: MT-TP were set to MERRF",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:56.860029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTRR was added\ngene: MTRR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:56.262249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTR was added\ngene: MTR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:55.474578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:54.752758+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 276300",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:54.162419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome; Mismatch repair cancer syndrome 276300",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:53.363405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRE11 was added\ngene: MRE11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:52.845319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPZ was added\ngene: MPZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MPZ were set to Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 2I 607677; Charcot-Marie-Tooth disease, type 1B 118200; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 2J 607736; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Neuropathy, congenital hypomyelinating 605253",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:52.055561+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:51.485058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to MPI-CDG, MONDO:0011257; Congenital disorder of glycosylation, type Ib, OMIM:602579",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:50.746152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:49.952745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:49.362645+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:48.553606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MICU1 was added\ngene: MICU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:47.971264+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGAT2 was added\ngene: MGAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:47.250989+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:46.661325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: MECP2 were set to 30712880\nPhenotypes for gene: MECP2 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13; MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE; CHROMOSOME XQ28 DUPLICATION SYNDROME; ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS; RETT SYNDROME (RTT)[",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:45.866421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCEE was added\ngene: MCEE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:45.071723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCCC2 was added\ngene: MCCC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:44.555506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCCC1 was added\ngene: MCCC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:43.764363+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MC2R was added\ngene: MC2R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:43.249285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAOA was added\ngene: MAOA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MAOA were set to BRUNNER SYNDROME",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:42.458011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:41.665302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP2 was added\ngene: LTBP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA; PRIMARY CONGENITAL GLAUCOMA TYPE 3D",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:41.148275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:40.351610+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMOD1 was added\ngene: LMOD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:39.762128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEMD3 was added\ngene: LEMD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME; MELORHEOSTOSIS",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:38.966332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDB3 was added\ngene: LDB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LDB3 were set to 17394203\nPhenotypes for gene: LDB3 were set to MYOPATHY MYOFIBRILLAR TYPE 4; LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:38.449030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: LAMP2 were set to DANON DISEASE",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:37.653527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC2 was added\ngene: LAMC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:36.855638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB3 was added\ngene: LAMB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:36.263557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:35.464583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT5B was added\ngene: KMT5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT5B were set to KMT5B syndrome",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:34.947333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2E was added\ngene: KMT2E was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:34.191695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIT was added\ngene: KIT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIT were set to HUMAN PIEBALDISM",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:33.564978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KISS1R was added\ngene: KISS1R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia 614837",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:32.845219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3; NEURONAL CEROID LIPOFUSCINOSIS",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:32.052560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNT1 was added\ngene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNT1 were set to SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:31.463456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ3 was added\ngene: KCNQ3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNQ3 were set to KCNQ3 syndrome",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:30.745208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ2 was added\ngene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNQ2 were set to 30712880\nPhenotypes for gene: KCNQ2 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:30.160270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:29.366657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM; DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:28.571015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ10 was added\ngene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:28.057904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNE1 was added\ngene: KCNE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:27.269235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNC1 was added\ngene: KCNC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7",
"entity_name": "KCNC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:26.671784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNB1 was added\ngene: KCNB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:25.955211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA2 was added\ngene: KCNA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:25.364328+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KBTBD13 was added\ngene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:24.575528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KARS were set to DEAFNESS, AUTOSOMAL RECESSIVE 89; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:24.047664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK3 was added\ngene: JAK3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:23.254547+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:22.461005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:21.872728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITPR1 was added\ngene: ITPR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome; SPINOCEREBELLAR ATAXIA TYPE15",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:21.149163+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA7 was added\ngene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA7 were set to 9590299\nPhenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:20.562518+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQSEC2 was added\ngene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:19.770032+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL17RD was added\ngene: IL17RD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IL17RD was set to Unknown\nPhenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:19.257834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGSF1 was added\ngene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:18.452093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYDIN was added\ngene: HYDIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYDIN were set to 30712880\nPhenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:17.656683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYAL1 was added\ngene: HYAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:17.070329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B7 was added\ngene: HSD3B7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:02:16.348429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B10 was added\ngene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY; MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10",
"entity_name": "HSD17B10",
"entity_type": "gene"
}
]
}