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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=753",
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"results": [
{
"created": "2022-09-19T15:05:42.296233+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM# 208400 MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:03:33.155231+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADK as ready",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:03:33.146178+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adk has been classified as Red List (Low Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:03:29.623593+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADK were changed from Hypermethioninemia due to adenosine kinase deficiency to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:03:16.001832+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADK were set to ",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:03:03.773432+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADK as Red List (low evidence)",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:03:03.763466+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adk has been classified as Red List (Low Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:02:51.743234+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046, 33309011; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:59:36.892383+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:59:36.882372+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:59:33.299859+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria to Aicardi-Goutieres syndrome 6, MIM# 615010",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:59:20.848096+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAR were set to ",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:59:09.132706+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:58:58.085868+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAR as Amber List (moderate evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:58:58.077996+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:57:53.492678+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ADAR.\nTag treatable tag was added to gene: ADAR.\nTag clinical trial tag was added to gene: ADAR.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:57:28.528498+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:45:09.139133+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.306",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "commented on gene: C17orf53: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency\r\nPMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.\r\n\r\nAdditional publication describing a homozygous LOF variant in an individual with POI and corresponding sensitivity to DNA damage elevates confidence in the gene as a cause of POI:\r\nPMID: 36099812",
"entity_name": "C17orf53",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:42:05.162927+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.306",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "gene: CLPB was added\ngene: CLPB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPB were set to PMID: 36074910\nPhenotypes for gene: CLPB were set to syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction\nReview for gene: CLPB was set to GREEN\nAdded comment: PMID: 36074910\r\nAffected individuals that survive beyond puberty experience premature ovarian insufficiency \nSources: Literature",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:40:35.707370+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL2 as ready",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:40:35.684690+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:40:31.441503+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 to Geleophysic dysplasia 1, MIM# 231050",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:40:19.752207+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTSL2 as Red List (low evidence)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:40:19.742228+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:40:08.636951+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM# 231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:36:55.963187+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTN4 as ready",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:36:55.954725+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn4 has been classified as Red List (Low Evidence).",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:36:52.161301+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN4 were changed from Glomerulosclerosis, focal segmental, 1 to Glomerulosclerosis, focal segmental, 1, MIM#603278",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:36:40.197826+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN4 as Red List (low evidence)",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:36:40.180624+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn4 has been classified as Red List (Low Evidence).",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T14:36:28.314087+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTN4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: None",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T13:51:05.877651+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG2 as ready",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T13:51:05.868825+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg2 has been classified as Red List (Low Evidence).",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T13:51:02.658784+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T13:50:47.230278+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTG2 as Red List (low evidence)",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T13:50:47.218293+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg2 has been classified as Red List (Low Evidence).",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T13:50:36.135993+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T09:00:03.991455+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACE as ready",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T09:00:03.981635+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ace has been classified as Red List (Low Evidence).",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T09:00:00.497267+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACE were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:59:48.971861+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACE were set to ",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:59:38.034208+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACE as Red List (low evidence)",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:59:38.020124+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ace has been classified as Red List (Low Evidence).",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:59:21.291276+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACE: Rating: RED; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:47:33.230852+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: NDNF were changed from Hypogonadotropic hypogonadism 25 with anosmia MIM#618841 to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:41:09.065811+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH) to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:40:46.778624+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: NDNF as Amber List (moderate evidence)",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:40:46.766883+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:40:20.891220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.335",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH) to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:40:12.488401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.334",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: NDNF as Amber List (moderate evidence)",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:40:12.480048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.334",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:35:47.905941+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.265",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883645; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T08:35:46.020441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883645; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:41.687657+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF674 was added\ngene: ZNF674 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZNF674 were set to Mental retardation",
"entity_name": "ZNF674",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:41.107149+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF252P was added\ngene: ZNF252P was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZNF252P were set to Hypothyroidism",
"entity_name": "ZNF252P",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:40.321605+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFPM2 was added\ngene: ZFPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZFPM2 were set to Tetralogy of Fallot",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:39.790224+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YARS2 was added\ngene: YARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:39.008999+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT7A was added\ngene: WNT7A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:38.499584+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT5A was added\ngene: WNT5A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WNT5A were set to Robinow syndrome",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:37.714225+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT3 was added\ngene: WNT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:37.200032+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNK1 was added\ngene: WNK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:36.487604+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR36 was added\ngene: WDR36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WDR36 were set to Glaucoma",
"entity_name": "WDR36",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:35.900512+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR35 was added\ngene: WDR35 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR35 were set to Cranioectodermal dysplasia",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:35.106089+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR19 was added\ngene: WDR19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR19 were set to Nephronophthisis",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:34.396619+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VSX1 was added\ngene: VSX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VSX1 were set to Keratoconus",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:33.835963+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS53 was added\ngene: VPS53 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:32.812851+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to VAMP1.\nSource BabySeq Category C gene was added to VAMP1.\nMode of inheritance for gene VAMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Spastic ataxia for gene: VAMP1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:32.297636+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UTP4 was added\ngene: UTP4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:31.508035+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRQ was added\ngene: UQCRQ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:30.996281+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRB was added\ngene: UQCRB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:30.194928+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGT1A5 was added\ngene: UGT1A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: UGT1A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A5 were set to UDP glucuronosyltransferase deficiency",
"entity_name": "UGT1A5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:29.613273+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGT1A4 was added\ngene: UGT1A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:28.517619+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to UCP2.\nSource BabySeq Category C gene was added to UCP2.\nAdded phenotypes Hyperinsulinism for gene: UCP2\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:27.792100+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBA1 was added\ngene: UBA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:27.217205+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBA8 was added\ngene: TUBA8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:26.501184+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSPYL1 was added\ngene: TSPYL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:25.937804+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSPEAR was added\ngene: TSPEAR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPEAR were set to Sensorineural deafness",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:25.203406+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSFM was added\ngene: TSFM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:24.687608+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM2 was added\ngene: TRPM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPM2 were set to ALS and Parkinson's disease",
"entity_name": "TRPM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:23.902491+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIP11 was added\ngene: TRIP11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIP11 were set to Achondrogenesis type 1A",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:23.396592+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRHR was added\ngene: TRHR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:22.603357+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRH was added\ngene: TRH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency",
"entity_name": "TRH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:22.100774+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:21.387679+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPRN was added\ngene: TPRN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPRN were set to Deafness, autosomal recessive",
"entity_name": "TPRN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:20.807924+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:20.041986+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPO was added\ngene: TMPO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMPO were set to Cardiomyopathy, dilated",
"entity_name": "TMPO",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:19.507022+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM237 were set to Joubert syndrome",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:18.716738+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel syndrome",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:18.209932+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMC8 was added\ngene: TMC8 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMC8 were set to Epidermodysplasia verruciformi",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:17.496415+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TJP2 was added\ngene: TJP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TJP2 were set to Hypercholanemia, familial",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:16.995493+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THBS1 was added\ngene: THBS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THBS1 were set to Pulmonary hypertension",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:16.208740+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THBD was added\ngene: THBD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THBD were set to Haemolytic uraemic syndrome",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:15.702455+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGIF1 was added\ngene: TGIF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGIF1 were set to Holoprosencephaly-4",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:14.915344+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:14.406883+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB1 was added\ngene: TGFB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB1 were set to Camurati-Engelmann disease",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:13.690853+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFR2 was added\ngene: TFR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TFR2 were set to Hemochromatosis type 3",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:13.117580+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were set to Joubert syndrome",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:12.418593+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN1 was added\ngene: TCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN1 were set to Joubert syndrome",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:11.899655+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCAP was added\ngene: TCAP was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCAP were set to Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2G",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:11.104210+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX20 was added\ngene: TBX20 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX20 were set to Congenital heart disease",
"entity_name": "TBX20",
"entity_type": "gene"
}
]
}