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"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=761",
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{
"created": "2022-09-19T07:27:38.993777+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:38.664966+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:38.309570+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:37.794626+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:37.488555+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFXANK was added\ngene: RFXANK was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B\t, MIM#209920",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:37.123327+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFWD3 was added\ngene: RFWD3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFWD3 were set to Fanconi anaemia, complementation group W, MIM# \t617784",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:36.820601+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RETREG1 was added\ngene: RETREG1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RETREG1 were set to 31737055; 31596031; 24327336; 19838196\nPhenotypes for gene: RETREG1 were set to MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:36.289324+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RET were set to Multiple endocrine neoplasia IIB; Multiple endocrine neoplasia IIA",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:35.906669+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REN was added\ngene: REN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REN were set to Renal tubular dysgenesis",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:35.610553+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:35.298532+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDX was added\ngene: RDX was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDX were set to 19215054; 22567349; 15314067; 26226137; 17226784\nPhenotypes for gene: RDX were set to Deafness, autosomal recessive 24, MIM# 611022",
"entity_name": "RDX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:34.718644+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:34.403977+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RB1 was added\ngene: RB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RB1 were set to Retinoblastoma",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:34.100220+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:33.593731+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAPSN was added\ngene: RAPSN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Congenital myasthenic syndrome, MIM#616326",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:33.289816+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAI1 was added\ngene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:32.927268+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAG2 was added\ngene: RAG2 was added to gNBS. Sources: BEginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG2 were set to Omenn syndrome, MIM#603554",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:32.607039+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAG1 was added\ngene: RAG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG1 were set to Omenn syndrome, MIM#603554",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:32.027416+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAF1 were set to Noonan syndrome",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:31.713587+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB7A was added\ngene: RAB7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:31.399512+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB3GAP2 were set to 20967465; 23420520\nPhenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:31.096096+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:30.522937+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB27A was added\ngene: RAB27A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB27A were set to Griscelli syndrome, MIM#607624",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:30.212384+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB23 was added\ngene: RAB23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to Carpenter syndrome",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:29.913454+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency, MIM#261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:29.605538+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYGM was added\ngene: PYGM was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGM were set to McCardle disease MIM# 608455",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:29.095295+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYGL was added\ngene: PYGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGL were set to Glycogen storage disease VI",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:28.782319+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, MIM#261640",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:28.415346+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPRC was added\ngene: PTPRC was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:28.103514+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTPN11 were set to Noonan syndrome",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:27.607023+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTH1R was added\ngene: PTH1R was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:27.305859+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTF1A was added\ngene: PTF1A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM#\t609069; Pancreatic agenesis 2, MIM#\t615935",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:27.006079+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to Cowden disease; Bannayan-Riley-Ruvalcaba syndrome",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:26.707447+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:26.194340+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSPH was added\ngene: PSPH was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, MIM#\t614023",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:25.893130+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency , MIM#\t610992",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:25.595660+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAP was added\ngene: PSAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to Metachromatic leukodystrophy",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:25.294095+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRX was added\ngene: PRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRX were set to Charcot-Marie-Tooth disease",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:24.711616+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROS1 was added\ngene: PROS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROS1 were set to Protein S deficiency",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:24.433377+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, MIM#262600",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:24.112644+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROKR2 was added\ngene: PROKR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:23.801887+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROC was added\ngene: PROC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:23.291773+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Carney complex",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:22.993083+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKDC was added\ngene: PRKDC was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, MIM#\t615966",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:22.694526+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRF1 was added\ngene: PRF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRF1 were set to Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:22.393668+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PREPL was added\ngene: PREPL was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22, MIM#\t616224",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:21.814871+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PQBP1 were set to Mental retardation",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:21.518134+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:21.199680+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU4F3 was added\ngene: POU4F3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POU4F3 were set to Deafness, autosomal dominant",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:20.896205+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU3F4 was added\ngene: POU3F4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: POU3F4 were set to Deafness, X-linked",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:20.387357+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, MIM#613038",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:20.021751+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PORCN was added\ngene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PORCN were set to Focal dermal hypoplasia",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:19.711902+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POR was added\ngene: POR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:19.426305+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT2 was added\ngene: POMT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:18.908271+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT1 was added\ngene: POMT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:18.611123+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:18.307633+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLH was added\ngene: POLH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLH were set to Xeroderma pigmentosum",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:18.013725+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:17.715120+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPO was added\ngene: PNPO was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal, MIM#610090",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:17.210297+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:16.911674+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKD was added\ngene: PNKD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:16.612790+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMP22 was added\ngene: PMP22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:16.310694+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:15.808727+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLPBP was added\ngene: PLPBP was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent\t, MIM#617290",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:15.512517+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:15.208662+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD1 was added\ngene: PLOD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:14.901004+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLG was added\ngene: PLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PLG were set to 29548426; 28795768; 10233898; 9242524; 29987869; 21174000\nPhenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:14.400760+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEC was added\ngene: PLEC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLEC were set to Muscular dystrophy; Epidermolysis bullosa simplex",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:14.102009+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCE1 was added\ngene: PLCE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCE1 were set to Nephrotic syndrome",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:13.811433+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:13.511056+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKLR was added\ngene: PKLR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKLR were set to Pyruvate kinase deficiency, MIM#266200",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:13.001688+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:12.697259+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD2 was added\ngene: PKD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKD2 were set to Polycystic kidney disease",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:12.425620+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD1 was added\ngene: PKD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKD1 were set to Polycystic kidney disease",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:12.099419+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PINK1 was added\ngene: PINK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PINK1 were set to Parkinson disease 6, early onset",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:11.589884+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CD was added\ngene: PIK3CD was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:11.216409+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, MIM# \t615214; Immunodeficiency 36, MIM#\t616005",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:10.913300+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PIGA were set to 32694024; 24706016; 26545172; 24357517; 33333793; 22305531\nPhenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:10.619146+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO2 was added\ngene: PIEZO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:10.320233+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHYH was added\ngene: PHYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:09.806360+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHKG2 was added\ngene: PHKG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHKG2 were set to Phosphorylase kinase deficiency",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:09.506754+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHKB was added\ngene: PHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHKB were set to Phosphorylase kinase deficiency",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:09.210167+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHKA2 was added\ngene: PHKA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:08.925388+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM#\t601815",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:08.420084+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHEX was added\ngene: PHEX was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM#\t307800",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:08.107615+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM3 was added\ngene: PGM3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM3 were set to Immunodeficiency 23, MIM#\t615816",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:07.807885+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM1 was added\ngene: PGM1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, MIM#\t614921",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:07.504103+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:06.998871+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PFKM was added\ngene: PFKM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PFKM were set to Glycogen storage disease 7",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:06.700131+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX7 was added\ngene: PEX7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Rhizomelic chondrodysplasia punctata; Refsum disease",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:06.388716+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX6 were set to Zellweger syndrome",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:06.088877+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX5 was added\ngene: PEX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX5 were set to Zellweger syndrome",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:05.511529+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX3 was added\ngene: PEX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX3 were set to Zellweger syndrome",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:05.207372+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX26 was added\ngene: PEX26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX26 were set to Zellweger syndrome",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:04.903556+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX2 was added\ngene: PEX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX2 were set to Zellweger syndrome",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:04.600747+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX13 was added\ngene: PEX13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX13 were set to Zellweger syndrome",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:04.301704+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX12 was added\ngene: PEX12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX12 were set to Zellweger syndrome",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:03.734493+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX10 was added\ngene: PEX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX10 were set to Zellweger syndrome",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:03.489176+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX1 was added\ngene: PEX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Zellweger syndrome",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:03.189696+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDZD7 was added\ngene: PDZD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDZD7 were set to Usher syndrome",
"entity_name": "PDZD7",
"entity_type": "gene"
}
]
}