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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=419",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=417",
"results": [
{
"created": "2024-07-25T14:13:34.235885+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq4 has been classified as Green List (High Evidence).",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:12:26.073394+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBT as ready",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:12:26.060586+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbt has been classified as Green List (High Evidence).",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:12:15.090902+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2024-07-25T13:47:06.399490+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "edited their review of gene: ARL6: Changed phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM#613575",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-25T13:45:35.471355+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "edited their review of gene: CRB1: Changed phenotypes: Leber congenital amaurosis 8 MIM#613835, Retinitis pigmentosa-12, MIM#600105",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2024-07-25T13:43:34.173404+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "edited their review of gene: COQ4: Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, MIM#620666",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-07-25T13:42:18.014504+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: At least 9 unrelated families reported.\r\n\r\nPrimary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.\r\n\r\nTreatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: At least 9 unrelated families reported.\r\n\r\nPrimary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.\r\n\r\nTreatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-07-25T13:38:58.594712+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6063",
"user_name": "Kushani Jayasinghe",
"item_type": "entity",
"text": "reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27231142, 29685658; Phenotypes: Hypermanganesemia with dystonia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2024-07-25T12:34:12.582373+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: ALOXE3: Added comment: Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel; Changed rating: GREEN",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T12:33:56.923457+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: HGNC approved symbol/name: ALOXE3\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says \"Affected individuals have a relatively mild ichthyosis phenotype\". Im not sure its severe enough to include here.\r\n\r\nDiscussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel\r\n\r\nTreatments available: No specific treatment available (from babyscreen); to: HGNC approved symbol/name: ALOXE3\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says \"Affected individuals have a relatively mild ichthyosis phenotype\". Im not sure its severe enough to include here.\r\n\r\nTreatments available: No specific treatment available (from babyscreen)",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T12:33:16.172102+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: HGNC approved symbol/name: ALOXE3\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says \"Affected individuals have a relatively mild ichthyosis phenotype\". Im not sure its severe enough to include here.\r\n\r\nTreatments available: No specific treatment available (from babyscreen); to: HGNC approved symbol/name: ALOXE3\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says \"Affected individuals have a relatively mild ichthyosis phenotype\". Im not sure its severe enough to include here.\r\n\r\nDiscussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel\r\n\r\nTreatments available: No specific treatment available (from babyscreen)",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T12:32:06.307202+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: HGNC approved symbol/name: ALOXE3\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says \"Affected individuals have a relatively mild ichthyosis phenotype\". Im not sure its severe enough to include here.\r\n\r\nTreatments available: No specific treatment available (from babyscreen)\r\n\r\nKnown technical challenges? Y; to: HGNC approved symbol/name: ALOXE3\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says \"Affected individuals have a relatively mild ichthyosis phenotype\". Im not sure its severe enough to include here.\r\n\r\nTreatments available: No specific treatment available (from babyscreen)",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T12:28:45.446241+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31755234, 32896647; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2024-07-25T12:19:46.554646+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: At least 9 unrelated families reported.\r\n\r\nPrimary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.\r\n\r\nTreatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: At least 9 unrelated families reported.\r\n\r\nPrimary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.\r\n\r\nTreatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:59:56.479299+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:59:56.467378+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Green List (High Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:59:31.767423+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4S1 as ready",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:59:31.751935+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4s1 has been classified as Green List (High Evidence).",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:58:58.626343+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF9 as ready",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:58:58.607638+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:58:52.376300+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGEF9 were changed from Epileptic encephalopathy, early infantile, 8, 300607 (3) to Developmental and epileptic encephalopathy 8, MIM# 300607",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:58:41.415628+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGEF9 were set to ",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:57:47.926779+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ARHGEF9.",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:57:13.759988+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL6 as ready",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:57:13.746379+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl6 has been classified as Green List (High Evidence).",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:57:10.019260+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, 600151 (3) to Bardet-Biedl syndrome 3, MIM# 600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:56:59.688700+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.40",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AIFM1 were set to ",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:56:59.229847+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6 were set to ",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:56:42.028832+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Usually associated with multi-system ciliopathy, ID is a feature.; to: Usually associated with multi-system ciliopathy, ID is usually, though not always, a feature. Note gene is also associated with isolated RP.",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:55:53.923048+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:55:11.934475+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSB as ready",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:55:11.919640+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsb has been classified as Green List (High Evidence).",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:55:08.581057+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSB were set to ",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:55:08.043425+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.38",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AGXT as ready",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:55:08.024493+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.38",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: agxt has been classified as Green List (High Evidence).",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:55:03.641571+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.38",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AGXT were set to ",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:54:29.172428+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:54:29.159035+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Green List (High Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:54:20.581723+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis, 228000 (3) to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950; Farber lipogranulomatosis, MIM#228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:54:06.746293+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.36",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AGA as ready",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:54:06.731731+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.36",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: aga has been classified as Green List (High Evidence).",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:54:04.987804+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950, Farber lipogranulomatosis, MIM#228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:54:00.399115+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.36",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AGA were set to ",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:51:42.960750+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1B1 as ready",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:51:42.947622+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:51:39.643355+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis with deafness, 267300 (3) to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:50:58.999382+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.34",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AGL as ready",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:50:58.984546+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.34",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: agl has been classified as Green List (High Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:50:54.260974+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.34",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AGL were set to ",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:50:47.717336+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:50:47.703070+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:50:44.373778+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from ATR-X-related syndrome MONDO:0016980; Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:50:34.151559+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATRX were set to ",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:52.672497+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS1 as ready",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:52.652202+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs1 has been classified as Green List (High Evidence).",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:48.834836+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900 (3) to Bardet-Biedl syndrome 1, MIM# 209900",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:44.114216+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.30",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ADSL as ready",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:44.089587+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.30",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:38.257466+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.30",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ADSL were set to ",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:36.659519+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS1 were set to ",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:49:05.328702+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:48:00.863928+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS12 as ready",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:48:00.846134+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs12 has been classified as Green List (High Evidence).",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:48:00.049583+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.29",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ACTA1 as ready",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:47:59.987345+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.29",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: acta1 has been classified as Green List (High Evidence).",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:47:55.829869+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.29",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ACTA1 were set to 19562689",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:47:53.287309+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:58.166874+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.28",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ACTA1 were set to ",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:43.220631+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QA as ready",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:43.206310+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qa has been classified as Green List (High Evidence).",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:39.532440+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QA were set to ",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:24.226889+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:10.243911+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.26",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ACAD9 as ready",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:10.220490+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.26",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: acad9 has been classified as Green List (High Evidence).",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:46:05.626363+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.26",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ACAD9 were set to ",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:44:35.964256+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3D as ready",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:44:35.950017+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3d has been classified as Green List (High Evidence).",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:44:10.088816+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3D were changed from Immunodeficiency 19, 615617 (3) to Immunodeficiency 19, severe combined MIM# 615617",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:44:07.314295+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.24",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ACO2 as ready",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:44:07.301832+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.24",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: aco2 has been classified as Green List (High Evidence).",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:44:04.001137+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.24",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ACO2 were set to ",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:43:12.035921+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN5 as ready",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:43:11.999391+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:43:09.091033+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 (3) to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:41:29.026610+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB1 as ready",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:41:28.999674+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb1 has been classified as Green List (High Evidence).",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:41:23.627837+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRB1 were set to ",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:41:10.238400+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 8, MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:40:10.590991+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.21",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ACADVL as ready",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:40:10.573946+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.21",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Green List (High Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:40:02.454640+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.21",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\nOnset at birth with death within first months of life\r\nNo treatment available\r\n\r\nNon-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V\r\n; to: Well established gene-disease association.\r\nOnset at birth with death within first months of life\r\nNo treatment available\r\n\r\n",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:39:39.193498+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.21",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ACADVL were set to ",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:39:19.013926+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.20",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nUsually presents in infancy.\r\n\r\nTreatable-ID – level 4 evidence: valine restriction improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations (PMID: 32642440); to: Well established gene-disease association.\r\n\r\nUsually presents in infancy.\r\n",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:38:53.802825+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSD as ready",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:38:53.787436+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:38:45.993463+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:37:35.919177+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ABHD5 as ready",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:37:35.900765+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Green List (High Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:37:31.104423+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome, 275630 (3) to Chanarin-Dorfman syndrome, MIM#275630",
"entity_name": "ABHD5",
"entity_type": "gene"
}
]
}