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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=620",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=618",
"results": [
{
"created": "2023-03-30T12:51:30.057644+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A6 as ready",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:51:30.051964+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, report in males only.",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:51:29.997561+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Green List (High Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:51:11.839623+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Green List (high evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:51:11.820720+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Green List (High Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:50:31.019509+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN9 as ready",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:50:31.007882+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn9 has been classified as Red List (Low Evidence).",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:50:23.642216+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN9 as Red List (low evidence)",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:50:23.633719+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn9 has been classified as Red List (Low Evidence).",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:49:36.858779+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP250 as ready",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:49:36.850314+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep250 has been classified as Red List (Low Evidence).",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:47:04.229582+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP250 as Red List (low evidence)",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:47:04.209205+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep250 has been classified as Red List (Low Evidence).",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:46:38.104113+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD12 as ready",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:46:38.093940+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Red List (Low Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:46:32.629551+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABHD12 as Red List (low evidence)",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:46:32.622187+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Red List (Low Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:45:25.317060+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD164 as ready",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:45:25.306637+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd164 has been classified as Red List (Low Evidence).",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:45:18.713114+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD164 as Red List (low evidence)",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:45:18.703095+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd164 has been classified as Red List (Low Evidence).",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:44:22.463742+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1B1 as ready",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:44:22.451206+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:44:14.326185+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP1B1 as Amber List (moderate evidence)",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:44:14.316655+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:44:02.369456+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:36:54.098889+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FA2H as ready",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:36:54.068720+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Green List (High Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:36:47.520894+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FA2H were changed from to Spastic Paraplegia (MIM#612319)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:36:20.586781+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FA2H were set to ",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:35:51.328375+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:35:21.826679+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: FA2H.",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:33:12.773231+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: LMX1A was added\ngene: LMX1A was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: LMX1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMX1A were set to PMID: 29754270\nPhenotypes for gene: LMX1A were set to Deafness, autosomal dominant 7 MIM#601412\nReview for gene: LMX1A was set to RED\nAdded comment: Age of onset too variable \nSources: Expert list",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:30:17.028156+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: GREB1L was added\ngene: GREB1L was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GREB1L were set to PMID: 29955957, 32585897\nPhenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80\tMIM#619274\nReview for gene: GREB1L was set to GREEN\nAdded comment: Congenital hearing impairment with cochlear abnormalities \r\nThis gene also causes Renal hypodysplasia/aplasia 3 MIM#617805 with no clear difference in mutation spectrum \nSources: Expert list",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:24:16.344712+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CRYM was added\ngene: CRYM was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: CRYM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRYM were set to PMID: 12471561, 32742378\nPhenotypes for gene: CRYM were set to Deafness, autosomal dominant 40\tMIM#616357\nReview for gene: CRYM was set to RED\nAdded comment: Dominant hearing loss \r\nOne paper infant onset, the other all adult onset \nSources: Expert list",
"entity_name": "CRYM",
"entity_type": "gene"
},
{
"created": "2023-03-30T12:13:17.905116+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: COL4A6 was added\ngene: COL4A6 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: COL4A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: COL4A6 were set to PMID: 33840813, PMID: 23714752\nPhenotypes for gene: COL4A6 were set to Deafness, X-linked 6 MIM#300914\nReview for gene: COL4A6 was set to GREEN\nAdded comment: Pre-lingual or congenital deafness in males\r\nconsider not reporting in females (may have adult onset hearing impairment) \nSources: Expert list",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:52:16.984457+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22532422, 22899577, 22387016, 24372060; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:50:49.162008+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CLDN9 was added\ngene: CLDN9 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN9 were set to PMID: 34265170\nPhenotypes for gene: CLDN9 were set to Deafness, autosomal recessive 116 MIM#619093\nReview for gene: CLDN9 was set to RED\nAdded comment: Age of onset not consistently <5 \nSources: Expert list",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:48:12.449277+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CEP250 was added\ngene: CEP250 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP250 were set to PMID: 34223797, PMID: 29718797, PMID: 30459346, PMID: 28005958\nPhenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2 MIM#618358\nReview for gene: CEP250 was set to RED\nAdded comment: Hearing loss and RP \r\nAtypical Usher phenotype \r\nAge of onset and penetrance of hearing loss component is variable and seeing as this is the treatable component have excluded from list \nSources: Expert list",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:33:22.416596+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ABHD12 was added\ngene: ABHD12 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674\nReview for gene: ABHD12 was set to RED\nAdded comment: Age of onset not consistently under 5 for treatable elements such as hearing loss. \nSources: Expert list",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:32:40.048076+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.156",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:32:13.310666+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.156",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:28:01.685200+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CD164 was added\ngene: CD164 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CD164 were set to Deafness, autosomal dominant 66 MIM#616969\nReview for gene: CD164 was set to RED\nAdded comment: Green in our mendeliome/deafness but limited evidence by clingen\r\nvariable age of onset from newborn to 20's reason for exclusion \nSources: Expert list",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:21:10.724335+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: AP1B1 was added\ngene: AP1B1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1B1 were set to PMID:31630791, 31630788, 33452671\nPhenotypes for gene: AP1B1 were set to Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150\nReview for gene: AP1B1 was set to GREEN\nAdded comment: Icthyosis\r\nprogressive hearing loss (childhood) often detected newborn screening \r\nphotophobia\r\ncorneal scarring/keratitis \r\nvariable dev delay\r\npart of copper metabolism pathway but no proven treatment \nSources: Expert list",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-03-30T11:11:09.764867+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A2 were set to 33577044; 33247988\nPhenotypes for gene: COL4A2 were set to Brain small vessel disease 2, MIM# 614483\nReview for gene: COL4A2 was set to RED\nAdded comment: There is no sufficient evidence supporting a causal role of the COL4A2 gene in brain calcification. \r\nPMID 33247988 reports a patient with focal lesions with increased echogenicity in the right basal ganglia, which was suspected to result from either haemorrhage or calcification. However, the patient carries full duplications and deletions of COL4A1 and COL4A2, so it is likely that the brain calcification is not caused by COL4A2. \r\nPMID 33577044 summarises that 4 patients with COL4A2 developed brain calcification, including 1 case from PMID 21357838, 2 cases from PMID 30315939 and 1 from the present paper. This paper does not mention brain calcification found in the 2 reported cases. (Interestingly, there is a calculation mistake for the total number of patients with COL4A2 who had brain calcification. The sum should be 4 instead of 5.) \r\nNone of the patients reported by PMID 21357838 carried COL4A2 variants nor developed brain calcification. \r\nAlthough PMID 30315939 reports 2 patients with COL4A2 variants, they did not show any sign of calcification. \nSources: Expert list",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-03-30T10:11:42.469081+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118816, 20301623; Phenotypes: Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945, MIM#612577); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-03-30T10:10:23.268290+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.109",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "changed review comment from: Susceptibility to virus including disseminated vaccine strain measles.; to: Susceptibility to virus including disseminated vaccine strain measles.\r\n\r\nAdditional publication\r\nPMID: 36976641",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2023-03-30T10:09:14.320978+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-03-30T10:08:39.130552+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.109",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "changed review comment from: Susceptibility to virus including disseminated vaccine strain measles.; to: Susceptibility to virus including disseminated vaccine strain measles.",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2023-03-30T10:07:33.174905+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "edited their review of gene: COL4A1: Added comment: In total, 20 patients with COL4A1 variants who developed brain calcification were reported.\r\nPMID 22134833 reports 5 patients with different COL4A1 variants who developed brain calcification.\r\nPMID 24372060 mentions a patient who has been reported by PMID 22134833 (case 3).\r\nPMID 25719457 reports 2 unrelated patients with different COL4A1 variants who developed brain calcification.\r\nPMID 23225343 reports 7 patients with different COL4A1 variants who developed brain calcification.\r\nPMID 22932948 reports 3 patients with COL4A1 variants who developed brain calcification, and mentions 5 patients who have been reported by PMID 22134833.; Changed publications: 24372060, 22134833, 25719457, 23225343, 22932948",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-03-30T09:46:14.478594+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.38",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24372060, 22134833; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-03-29T16:48:00.864381+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301561, 12404112, 15824261, 12404112; Phenotypes: Chorea-acanthocytosis (MONDO: 0008695, MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2023-03-29T16:42:29.032156+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2023-03-29T16:41:44.396754+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301561, 12404112, 15824261, 12404112; Phenotypes: Chorea-acanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2023-03-29T16:05:04.419638+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301528, 17133513; Phenotypes: McLeod Syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-03-29T13:43:17.391151+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CLU: Rating: RED; Mode of pathogenicity: Other; Publications: 19734903, 20301340; Phenotypes: Alzheimer's Disease (MIM#104300); Mode of inheritance: Unknown",
"entity_name": "CLU",
"entity_type": "gene"
},
{
"created": "2023-03-29T13:16:25.494786+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31135052, 29395073, 18463364, 19068277, 20104589; Phenotypes: Spastic Paraplegia (MIM#612319); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2023-03-29T13:00:50.016882+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMP2 as Amber List (moderate evidence)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-03-29T13:00:49.999939+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-03-29T13:00:34.583592+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMP2: Added comment: Treatment is currently symptomatic.\r\n\r\nOn watch list with regards to specific treatment/clinical trials.; Changed rating: AMBER",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:55:30.346095+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: NKX2-5.",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:53:38.526591+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426 to Cardiomyopathy, hypertrophic, 1, MIM# 192600",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:53:22.644157+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:53:12.488467+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH7 as Green List (high evidence)",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:53:12.477641+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh7 has been classified as Green List (High Evidence).",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:53:02.100624+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: MYH7.\nTag treatable tag was added to gene: MYH7.",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:52:46.941684+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYH7: Added comment: Discussed with paedric cardiologist: include bi-allelic cardiac variants as can present in the neonatal period with an aggressive cardiomyopathy and associated arrhythmias.; Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, hypertrophic, 1, MIM# 192600; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:50:41.039146+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622 to Andersen syndrome MIM#170390",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:48:40.945026+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:19472444 – Study to identify whether mutation sin CALHM1 had any correlation to Alzheimers Disease. Study showed no association between CALHM1 and Alzheimers Disease; to: PMID:19472444 – Study to identify whether mutations in CALHM1 had any correlation to Alzheimers Disease. Study showed no association between CALHM1 and Alzheimers Disease (AD)\r\n\r\nNo evidence showing correlation between CALHM1 mutations and AD",
"entity_name": "CALHM1",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:48:05.280094+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CALHM1: Rating: RED; Mode of pathogenicity: Other; Publications: 19472444; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CALHM1",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:47:15.476470+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ2 as Green List (high evidence)",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:47:15.468054+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:46:59.859016+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNJ2: Added comment: Include for Andersen syndrome and Long QT-associated variants only. Onset in infancy.; Changed rating: GREEN; Changed phenotypes: Andersen syndrome MIM#170390",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:42:20.916975+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRDN as Amber List (moderate evidence)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:42:20.909852+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trdn has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:42:07.880632+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.\r\n\r\nThe mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.\r\n\r\nBeta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.\r\n\r\nIn patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.\r\n\r\nClinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.\r\n\r\nFor review: age of onset and penetrance.; to: Rated as 'strong actionability' for paediatric patients by ClinGen.\r\n\r\nThe mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.\r\n\r\nBeta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.\r\n\r\nIn patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.\r\n\r\nClinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.\r\n\r\nReviewed with paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:40:35.338016+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRDN: Changed rating: AMBER",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:39:33.960951+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TECRL as Amber List (moderate evidence)",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:39:33.948930+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tecrl has been classified as Amber List (Moderate Evidence).",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:39:16.344928+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rated as 'strong actionability' for paediatric patients by ClinGen.\r\n\r\nThe mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.\r\n\r\nBeta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.\r\n\r\nIn patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.\r\n\r\nClinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.\r\n\r\nFor review: age of onset and penetrance. \nSources: ClinGen; to: Rated as 'strong actionability' for paediatric patients by ClinGen.\r\n\r\nThe mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.\r\n\r\nBeta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.\r\n\r\nIn patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.\r\n\r\nClinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.\r\n\r\nReviewed with a paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:38:38.397452+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TECRL: Changed rating: AMBER; Changed phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:37:26.445076+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN5A as Amber List (moderate evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:37:26.433604+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:37:14.487641+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nNote LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood.\r\n\r\nFor review: age of onset and penetrance.; to: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nNote LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood.\r\n\r\nReviewed with paediatric cardiologist: generally later age of onset, does not fulfil criteria for gNBS.",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:36:38.683096+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN5A: Changed rating: AMBER",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:35:09.014924+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKG1 as Amber List (moderate evidence)",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:35:08.997186+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:34:54.214022+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%). \nSources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%). \r\n\r\nDiscussed with a paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.\r\nSources: ClinGen",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:34:14.830983+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKG1: Changed rating: AMBER",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:33:40.197438+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH11 as Amber List (moderate evidence)",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:33:40.189022+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:33:27.395450+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.\r\n\r\nReviewed with a paediatric cardiologist: variable penetrance and age of onset, does not meet criteria for gNBS.",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:32:55.388663+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYH11: Changed rating: AMBER",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:32:06.734089+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LOX as Amber List (moderate evidence)",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:32:06.723137+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lox has been classified as Amber List (Moderate Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:31:54.537039+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection. \nSources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.\r\n\r\nFTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).\r\n\r\nVariable age of clinical presentation.\r\n\r\nProphylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.\r\n\r\nBeta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.\r\n\r\nPenetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.\r\n\r\nDiscussed with paediatric cardiologist: variable penetrance and age of onset, does not fit with criteria for gNBS.\r\nSources: ClinGen",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:31:22.422262+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LOX: Changed rating: AMBER",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:24:21.607049+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JUP as Amber List (moderate evidence)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:24:21.590084+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Amber List (Moderate Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-03-29T12:24:07.441286+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Screen for bi-allelic disease as can be earlier onset, more severe.; to: Discussed potentially just screening for bi-allelic disease as can be earlier onset, more severe.\r\n\r\nDiscussed further with a paediatric cardiologist: variable age of onset and penetrance, therefore does not meet criteria.",
"entity_name": "JUP",
"entity_type": "gene"
}
]
}