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"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=767",
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{
"created": "2022-09-19T07:24:52.596242+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN19 was added\ngene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:52.441163+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN14 was added\ngene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:52.299040+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:52.136496+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN5 was added\ngene: CLCN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN5 were set to Dent disease",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:51.996519+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIB2 was added\ngene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137\nPhenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:51.817355+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNG was added\ngene: CHRNG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to Pterygium syndrome",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:51.702844+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNE was added\ngene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:51.526334+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRND was added\ngene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:51.408164+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNB1 was added\ngene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# \t616314",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:51.224413+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNA1 was added\ngene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:51.102006+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHM was added\ngene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CHM were set to Choroideremia",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:50.918381+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHKB was added\ngene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:50.799952+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD7 were set to CHARGE syndrome",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:50.688395+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD2 was added\ngene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:50.515617+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHAT was added\ngene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:50.390385+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:50.203825+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFP was added\ngene: CFP was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CFP were set to Properdin deficiency, X-linked, MIM#312060",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:50.031067+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFD was added\ngene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFD were set to Complement factor D deficiency, MIM#\t613912",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:49.903201+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFB was added\ngene: CFB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFB were set to Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM#\t612924",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:49.790773+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFL2 was added\ngene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFL2 were set to Nemaline myopathy",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:49.614003+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFC1 was added\ngene: CFC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFC1 were set to Congenital heart defects",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:49.494385+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP83 was added\ngene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP83 were set to 33938610; 24882706\nPhenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:49.315001+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP78 was added\ngene: CEP78 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:49.200118+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Joubert syndrome",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:49.026095+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP152 was added\ngene: CEP152 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP152 were set to Seckel syndrome",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:48.904861+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDT1 was added\ngene: CDT1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDT1 were set to 22333897; 21358632; 21358631; 33338304\nPhenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:48.790063+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDSN was added\ngene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDSN were set to Hypotrichosis",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:48.620129+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:48.495667+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKL5 was added\ngene: CDKL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:48.315393+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK5RAP2 was added\ngene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:48.198584+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH23 was added\ngene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:48.021783+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC14A was added\ngene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:47.911777+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDAN1 was added\ngene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:47.798781+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD79B was added\ngene: CD79B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD79B were set to Agammaglobulinaemia 6, MIM#\t612692",
"entity_name": "CD79B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:47.689679+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD79A was added\ngene: CD79A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD79A were set to Agammaglobulinaemia 3, MIM#\t613501",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:47.503351+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD40LG was added\ngene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:47.392418+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD3E was added\ngene: CD3E was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD3E were set to Immunodeficiency 18, MIM#\t615615",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:47.217620+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD3D was added\ngene: CD3D was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD3D were set to Immunodeficiency 19, MIM#\t615617",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:47.107357+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC40 was added\ngene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.991532+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC39 was added\ngene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.822488+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.705959+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.593154+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GIF was added\ngene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM#\t261000",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.424905+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.305349+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAVIN1 was added\ngene: CAVIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.123432+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAV3 was added\ngene: CAV3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAV3 were set to Caveolinopathy; Muscular dystrophy, limb-girdle, type IC",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:46.006727+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM#\t239200",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:45.888613+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASQ2 was added\ngene: CASQ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:45.712669+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:45.598063+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD11 was added\ngene: CARD11 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CARD11 were set to 23374270; 28628108; 23561803; 12818158\nPhenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM#\t615206",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:45.454804+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAPN3 was added\ngene: CAPN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:45.301178+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1F was added\ngene: CACNA1F was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:45.158215+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1D was added\ngene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM#\t615474",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:45.045617+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1C were set to Timothy syndrome, MIM#\t601005; Long QT syndrome 8, MIM#\t618447",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:44.897327+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1A was added\ngene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1A were set to Episodic ataxia, type 2",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:44.723900+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CABP2 was added\ngene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:44.610291+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA2 was added\ngene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:44.497649+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA5A was added\ngene: CA5A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA5A were set to Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM#\t615751",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:44.352914+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C9 was added\ngene: C9 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C9 were set to C9 deficiency, MIM#\t613825",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:44.223431+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8B was added\ngene: C8B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8B were set to C8 deficiency, type II, MIM#\t613789",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:44.101320+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8A was added\ngene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8A were set to C8 deficiency, type I, MIM#\t613790",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.921463+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C7 was added\ngene: C7 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C7 were set to C7 deficiency, MIM#\t610102",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.813139+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C6 was added\ngene: C6 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C6 were set to C6 deficiency, MIM#\t612446",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.693894+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C5 was added\ngene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5 were set to C5 deficiency, MIM#\t609536",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.524083+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C3 was added\ngene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C3 were set to C3 deficiency, MIM#\t613779",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.414226+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTK was added\ngene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, MIM#300755",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.296502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTD was added\ngene: BTD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BTD were set to Biotinidase deficiency, MIM#253260",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.126148+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSND was added\ngene: BSND was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:43.013043+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, MIM# 269700; Berardinelli-Seip lipodystrophy",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:42.893705+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRIP1 was added\ngene: BRIP1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM#\t609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:42.720272+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to Fanconi anaemia, complementation group D, MIM#1\t605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:42.623732+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM# 115150; Noonan syndrome 7, MIM# 613706",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:42.496664+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPR1A was added\ngene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:42.315798+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLNK was added\ngene: BLNK was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLNK were set to Agammaglobulinaemia 4, MIM#613502",
"entity_name": "BLNK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:42.210474+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:42.091204+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BIN1 was added\ngene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.913488+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.815726+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to Complex 3 deficiency",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.701704+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDK was added\ngene: BCKDK was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency, MIM#\t614923",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.591120+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.422566+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHA was added\ngene: BCKDHA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.317632+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCHE was added\ngene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM#\t617936",
"entity_name": "BCHE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.198538+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:41.024584+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.915130+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Bardet-Biedl syndrome",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.807760+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.701008+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Bardet-Biedl syndrome",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.597355+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet-Biedl syndrome",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.490430+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet-Biedl syndrome",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.317027+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.199204+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BAAT was added\ngene: BAAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BAAT were set to Bile acid amidation defect",
"entity_name": "BAAT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:40.037621+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to Peters-Plus syndrome",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.907945+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AVPR2 was added\ngene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.798654+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.635821+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.513305+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP8B1 was added\ngene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.400858+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7B was added\ngene: ATP7B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.296839+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Menkes disease, MIM# 309400",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.122247+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss, MIM#267300",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:39.012261+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A4 was added\ngene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3\t602722",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
}
]
}