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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1636",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1634",
"results": [
{
"created": "2020-08-27T21:07:37.832108+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUC5B was added\ngene: MUC5B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic",
"entity_name": "MUC5B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:37.335312+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTO1 was added\ngene: MTO1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:36.625834+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND6 was added\ngene: MT-ND6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy",
"entity_name": "MT-ND6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:36.132244+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND4 was added\ngene: MT-ND4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:35.348744+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND1 was added\ngene: MT-ND1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:34.925469+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSRB3 was added\ngene: MSRB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MSRB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSRB3 were set to Deafness, autosomal recessive",
"entity_name": "MSRB3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:34.149437+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSH6 were set to Lynch syndrome",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:33.644629+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSH2 were set to Lynch syndrome",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:33.147134+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPS22 was added\ngene: MRPS22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRPS22 were set to Mitochondrial respiratory chain disorder",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:32.437263+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPS16 was added\ngene: MRPS16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRPS16 were set to Mitochondrial respiratory chain disorder",
"entity_name": "MRPS16",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:31.939667+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPDU1 was added\ngene: MPDU1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:31.234233+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOGS was added\ngene: MOGS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOGS were set to Glucosidase 1 deficiency",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:30.736929+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLPH was added\ngene: MLPH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLPH were set to Griscelli syndrome type 3",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:30.237525+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MLH1 were set to Lynch syndrome",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:29.523190+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIR96 was added\ngene: MIR96 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MIR96 were set to Hearing loss",
"entity_name": "MIR96",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:29.030186+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIB1 was added\ngene: MIB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MIB1 were set to Left ventricular noncompaction",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:28.248103+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGAT2 was added\ngene: MGAT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGAT2 were set to CDG syndrome type IIa",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:27.818670+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESP2 was added\ngene: MESP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MESP2 were set to Spondylocostal dysostosis, autosomal recessive 2",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:27.320174+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED25 was added\ngene: MED25 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:26.538747+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED20 was added\ngene: MED20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MED20 were set to Congenital heart disease",
"entity_name": "MED20",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:26.045363+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED13L was added\ngene: MED13L was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MED13L were set to Transposition of great arteries",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:25.336895+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCEE was added\ngene: MCEE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:07:24.839117+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MATN4 was added\ngene: MATN4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MATN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MATN4 were set to Multiple anomalies",
"entity_name": "MATN4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:24.346789+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAT1A was added\ngene: MAT1A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:23.545928+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPT was added\ngene: MAPT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:23.121949+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK10 was added\ngene: MAPK10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAPK10 were set to Epileptic encephalopathy",
"entity_name": "MAPK10",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:22.347514+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYZ was added\ngene: LYZ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LYZ were set to Amyloidosis, systemic",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:21.921757+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LUM was added\ngene: LUM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LUM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LUM were set to Amyotrophic lateral sclerosis",
"entity_name": "LUM",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:21.433819+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRK2 was added\ngene: LRRK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRRK2 were set to Parkinson disease",
"entity_name": "LRRK2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:20.718707+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPP was added\ngene: LPP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LPP were set to Tetralogy of Fallot",
"entity_name": "LPP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:20.225747+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPIN2 was added\ngene: LPIN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPIN2 were set to Majeed syndrome",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:19.517536+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNB2 was added\ngene: LMNB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMNB2 were set to Lipodystrophy, partial",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:19.032325+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHB was added\ngene: LHB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHB were set to Hypogonadism",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:18.539011+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LGI1 was added\ngene: LGI1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:17.833792+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDB3 was added\ngene: LDB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LDB3 were set to Myofibrillar myopathy",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:17.126443+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to LBR.\nSource Expert Review Red was added to LBR.\nMode of inheritance for gene LBR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Reynolds syndrome for gene: LBR\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:16.341302+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS2 were set to Perrault syndrome",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:15.849463+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:15.341309+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA4 was added\ngene: LAMA4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:14.634170+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT8 was added\ngene: KRT8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:14.139844+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT6B was added\ngene: KRT6B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT6B were set to Pachyonychia congenita",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:13.425207+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT18 was added\ngene: KRT18 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KRT18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT18 were set to Cirrhosis, cryptogenic",
"entity_name": "KRT18",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:12.935043+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KPTN was added\ngene: KPTN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KPTN were set to Macrocephaly, neurodevelopmental delay, and seizures",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:12.446603+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF1 was added\ngene: KLF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KLF1 were set to Anemia, dyserythropoietic congenital, type IV",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:11.741660+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF22 was added\ngene: KIF22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:11.318622+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1B was added\ngene: KIF1B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease",
"entity_name": "KIF1B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:10.827149+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1BP was added\ngene: KIF1BP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:07:10.122172+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM5B was added\ngene: KDM5B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KDM5B were set to Congenital heart disease",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:09.635559+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ3 was added\ngene: KCNQ3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ3 were set to Epilepsy, benign neonatal",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:08.928759+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ2 was added\ngene: KCNQ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ2 were set to Epilepsy, benign neonatal",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:08.438167+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1OT1 was added\ngene: KCNQ1OT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNQ1OT1 was set to Unknown\nPhenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:07.944563+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ8 was added\ngene: KCNJ8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ8 were set to Sudden infant death syndrom",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:07.243460+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ5 was added\ngene: KCNJ5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ5 were set to Long QT syndrome",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:06.748173+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ18 was added\ngene: KCNJ18 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis",
"entity_name": "KCNJ18",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:06.330783+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNE3 was added\ngene: KCNE3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNE3 were set to Brugada syndrome",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:05.629781+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNE5 was added\ngene: KCNE5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNE5 were set to Atrial fibrillation",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:05.138472+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCND3 was added\ngene: KCND3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCND3 were set to Brugada syndrome",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:04.148165+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hearing loss for gene: KARS",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:03.717442+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KARS were set to Charcot-Marie-Tooth disease, recessive intermediate",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:02.936608+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JPH2 was added\ngene: JPH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:02.443598+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IYD was added\ngene: IYD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IYD were set to Thyroid dyshormonogenesis",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:02.024212+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA7 was added\ngene: ITGA7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:01.241605+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA6 was added\ngene: ITGA6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:00.746187+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA3 was added\ngene: ITGA3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:07:00.067262+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISL1 was added\ngene: ISL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ISL1 were set to Diabetes, type 2",
"entity_name": "ISL1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:59.541476+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISCU was added\ngene: ISCU was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase",
"entity_name": "ISCU",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:59.121688+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRS1 was added\ngene: IRS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent",
"entity_name": "IRS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:58.151768+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to IRF6.\nSource Expert Review Red was added to IRF6.\nAdded phenotypes Popliteal pterygium syndrome for gene: IRF6\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:57.635078+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ILK was added\ngene: ILK was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ILK were set to Cardiomyopathy, dilated",
"entity_name": "ILK",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:56.931039+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10RB was added\ngene: IL10RB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RB were set to Inflammatory bowel disease",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:56.434026+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1 was added\ngene: IGF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:55.940223+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGBP1 was added\ngene: IGBP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:55.238047+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT80 was added\ngene: IFT80 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:54.740916+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT43 was added\ngene: IFT43 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT43 were set to Cranioectodermal dysplasia",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:54.317445+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT122 was added\ngene: IFT122 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT122 were set to Cranioectodermal dysplasia",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:53.534830+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYLS1 were set to Hydrolethalus syndrome",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:53.046826+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYDIN was added\ngene: HYDIN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYDIN were set to Primary ciliary dyskinesia",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:52.344157+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:51.927893+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPD were set to Tyrosinemia, type III",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:51.439794+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA1 was added\ngene: HOXA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:50.734875+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOMEZ was added\ngene: HOMEZ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HOMEZ were set to Congenital heart disease",
"entity_name": "HOMEZ",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:50.240301+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF4A were set to Hypoglycaemia, hyperinsulinaemic",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:49.747746+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:49.041353+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HMBS were set to Porphyria, acute intermittent",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:48.549317+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:48.134998+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:47.431989+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HGF was added\ngene: HGF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGF were set to Deafness, autosomal recessive",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:46.939479+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE2 were set to Haemochromatosis",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:46.517467+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to Hemochromatosis",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:45.746029+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HESX1 were set to Pituitary hypoplasia",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:45.331756+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HERC2 was added\ngene: HERC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HERC2 were set to Autism spectrum disorder",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:44.626150+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF5 was added\ngene: DNAAF5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:44.142279+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HCN4 were set to Brugada syndrome",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:43.720307+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCCS was added\ngene: HCCS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HCCS were set to Microphthalmia",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:42.945993+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAS2 was added\ngene: HAS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HAS2 were set to Congenital heart disease",
"entity_name": "HAS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:42.529159+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HARS2 was added\ngene: HARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS2 were set to Perrault syndrome",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:42.044405+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HARS was added\ngene: HARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS were set to Usher syndrome type 3B",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:41.340315+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAMP were set to Haemochromatosis",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:40.641777+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to HADH.\nSource Expert Review Red was added to HADH.\nAdded phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency for gene: HADH\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:06:39.935412+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GYG1 was added\ngene: GYG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYG1 were set to Glycogen storage disease XV",
"entity_name": "GYG1",
"entity_type": "gene"
}
]
}