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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=470",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=468",
"results": [
{
"created": "2024-04-16T19:01:03.895438+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:57:54.077671+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to ",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:57:12.811918+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:56:34.453183+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:54:53.530327+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS4 as ready",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:54:53.522341+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:52:29.365003+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:51:49.229407+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS4 were set to ",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:51:13.293639+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:50:43.780556+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:34:48.658238+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX2 as ready",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:34:48.646990+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Green List (High Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:32:45.581717+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STRA6 as ready",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:32:45.570764+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Green List (High Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:19:59.273706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from to Matthew-Wood syndrome MONDO:0011010",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:19:26.479576+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STRA6 were set to ",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:18:52.112930+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:15:29.240876+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFC1 as ready",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:15:29.225801+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufc1 has been classified as Green List (High Evidence).",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:14:48.031246+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WARS2 as ready",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:14:48.017922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:14:27.245242+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:14:27.229840+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Green List (High Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:14:17.911051+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:13:13.804571+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC1 as ready",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2024-04-16T18:13:13.792339+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic1 has been classified as Green List (High Evidence).",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2024-04-16T11:02:37.312511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM58A was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2024-04-16T11:02:18.145408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2024-04-15T15:51:54.784151+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1694",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006476; Phenotypes: polymicrogyria with optic nerve hypoplasia (MONDO:0013172); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2024-04-15T14:44:44.156268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1694",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2024-04-15T10:26:04.701930+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.36",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: SHARPIN was added\ngene: SHARPIN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: SHARPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHARPIN were set to PMID: 38609546\nPhenotypes for gene: SHARPIN were set to recurrent fever\nReview for gene: SHARPIN was set to GREEN\nAdded comment: Two unrelated patients with homozygous frameshift variants presenting with:\r\nP1 - recurrent fever, parotitis, joint inflammation, colitis and chronic otitis media necessitating tympanoplasty\r\nP2 - recurrent fever episodes with lymphadenopathy and vomiting every 2–3 weeks.\r\n\r\nExtensive functional data and mouse model. \nSources: Literature",
"entity_name": "SHARPIN",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:26:53.690996+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Developmental and epileptic encephalopathy 115, MIM#620783; Neurodevelopmental disorder plus optic atrophy, MIM# 620784",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:26:14.060947+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SNF8: Four individuals from 3 families with NDD plus OA, rather than DEE.",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:25:59.485066+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNF8: Changed phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783, Neurodevelopmental disorder plus optic atrophy, MIM# 620784",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:25:27.374961+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Neurodevelopmental disorder plus optic atrophy, MIM# 620784",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:24:55.280452+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNF8: Changed phenotypes: Neurodevelopmental disorder plus optic atrophy, MIM# 620784",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:24:35.223467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Developmental and epileptic encephalopathy 115, MIM#620783; Neurodevelopmental disorder plus optic atrophy, MIM# 620784",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:24:10.355017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNF8: Added comment: Four individuals from 3 families with NDD plus OA, rather than DEE.; Changed phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783, Neurodevelopmental disorder plus optic atrophy, MIM# 620784",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:22:21.437981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSUN6 were changed from neurodevelopmental disorder MONDO:0700092, NSUN6-related to Intellectual developmental disorder, autosomal recessive 82, MIM# 620779",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:21:47.299811+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 82, MIM# 620779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:21:25.839895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSUN6 were changed from neurodevelopmental disorder MONDO:0700092, NSUN6-related to Intellectual developmental disorder, autosomal recessive 82, MIM# 620779",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2024-04-13T16:21:02.427065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 82, MIM# 620779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN6",
"entity_type": "gene"
},
{
"created": "2024-04-13T14:25:29.949318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1692",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: CANVAS_ACAGG as Green List (high evidence)",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2024-04-13T14:25:29.940936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1692",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: canvas_acagg has been classified as Green List (High Evidence).",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2024-04-13T14:25:10.464797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1691",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: CANVAS_ACAGG: Added comment: Additional 4 unrelated cases homozygous for the (ACAGG)exp and one compound het with AAGGG/ACAGG expansion in a Japanese neuropathy cohort.; Changed rating: GREEN; Changed publications: 33103729, 36061987; Changed phenotypes: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720; Set clinically relevant: yes",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2024-04-13T07:34:00.984648+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2024-04-13T07:33:05.151558+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM#\t620782; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2024-04-13T07:32:06.332741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM#\t620782; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:33:41.992499+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: BMP2 as ready",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:33:41.980904+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: bmp2 has been classified as Green List (High Evidence).",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:33:32.100225+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37572998, 29198724; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:31:52.238517+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:31:45.588026+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:15:17.446956+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: BMP2 as Green List (high evidence)",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:15:17.427790+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: bmp2 has been classified as Green List (High Evidence).",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:13:09.314507+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.417",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: BMP2 was added\ngene: BMP2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP2 were set to 29198724\nPhenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877\nReview for gene: BMP2 was set to GREEN\ngene: BMP2 was marked as current diagnostic\nAdded comment: 8 families with 12 affecteds\r\n\r\n4 with CHD\r\nTransposition of the great arteries HP:0001669\r\nMild pulmonary valve stenosis HP:0001642\r\nEbstein's anomaly HP:0010316\r\nWolff-Parkinson-White syndrome HP:0001716, perimembranous VSD HP:0011682 \nSources: Literature",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:05:59.784387+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COMP as ready",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:05:59.774495+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: comp has been classified as Amber List (Moderate Evidence).",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:05:17.411738+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COMP as Amber List (moderate evidence)",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:05:17.379207+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: comp has been classified as Amber List (Moderate Evidence).",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2024-04-12T15:04:40.827243+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.28",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: COMP was added\ngene: COMP was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COMP were set to 20508815; 14684695; 15880723\nPhenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1\tMIM#132400\nReview for gene: COMP was set to AMBER\ngene: COMP was marked as current diagnostic\nAdded comment: Not a common feature of MED.\r\nAmber so as not to miss a diagnosis\r\n\r\nPMID: 14684695\r\n2 families only 1 with mild myopathy\r\nFam1: 1 father + 3 sibs, only 1 reported muscle weakness\r\nFam2: no muscle weakness reported\r\n\r\nPMID: 15880723\r\n10 families but only 1 reported mild myopathy\r\n\r\nPMID: 20508815\r\nadditional 2 unrelated individuals from European Skeletal Dysplasia Network \nSources: Literature",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:54:03.429013+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL9A2 as ready",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:54:03.415838+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:53:09.190490+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COL9A2 as Amber List (moderate evidence)",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:53:09.173529+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.27",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:52:28.769491+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: COL9A2 was added\ngene: COL9A2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: COL9A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL9A2 were set to 20508815; 20358595\nPhenotypes for gene: COL9A2 were set to Epiphyseal dysplasia, multiple, 2\tMIM#600204\nReview for gene: COL9A2 was set to AMBER\ngene: COL9A2 was marked as current diagnostic\nAdded comment: not a common feature. only 1 paper found in pubmed and google (search terms COL9A2 AND myopathy)\r\nAmber so as not to miss a diagnosis\r\n\r\nPMID: 20358595\r\n2 families with multiple affecteds but only 1 from each reporting muscle weakness\r\n\r\nPMID: 20508815\r\nadditional individual from European Skeletal Dysplasia Network \nSources: Literature",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:47:22.552835+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.25",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL9A3 as ready",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:47:22.537889+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.25",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:47:16.755470+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.25",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: COL9A3 as Amber List (moderate evidence)",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:47:16.738419+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.25",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2024-04-12T14:46:25.405973+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL9A3 were set to 10655510\nPhenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy\tMIM#600969\nReview for gene: COL9A3 was set to AMBER\ngene: COL9A3 was marked as current diagnostic\nAdded comment: Not a common feature of MED, only one paper found in pubmed (search terms COL9A3 AND myopathy).\r\nAmber so as not to miss a diagnosis\r\n\r\nPMID: 10655510\r\n1x male with proximal muscle weakness \nSources: Literature",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2024-04-12T13:33:25.428936+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2549",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-04-12T13:33:22.459136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1690",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-04-12T13:32:39.767873+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2549",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Epilepsy; Intellectual Disability; microcephaly; Spasticity; hypothyroidism; Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-04-12T13:32:23.886139+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.73",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355; progressive spasticity; hypothyroidism; developmental delay; epilepsy to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-04-12T13:32:18.520482+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.192",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-04-12T13:32:09.369707+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5770",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-04-12T13:31:58.939826+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.234",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:49:40.061617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMA5 as ready",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:49:40.048154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psma5 has been classified as Red List (Low Evidence).",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:49:24.320399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMA5 was added\ngene: PSMA5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMA5 was set to Other\nPublications for gene: PSMA5 were set to 37600812\nPhenotypes for gene: PSMA5 were set to Inborn error of immunity, MONDO:0003778, PSMA5-related; PRAAS/CANDLE\nReview for gene: PSMA5 was set to RED\nAdded comment: Single patient with heterozygous PSMB8 variant and de-novo PSMA5 truncating variant (p.Arg168*) with clinical features of CANDLE. Patient also had splice site variant in PSMC5. In silico modelling showing interaction of PSMB8 and PSMA5. PSMA5/a5 is a constitutive component of the 20S core proteasome, ? digenic model of disease. \nSources: Literature",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:47:32.290194+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMA5 as ready",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:47:32.281197+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psma5 has been classified as Red List (Low Evidence).",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:47:28.769820+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMA5 were changed from PRAAS/CANDLE to Inborn error of immunity, MONDO:0003778, PSMA5-related; PRAAS/CANDLE",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:42:26.397893+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMA5 as Red List (low evidence)",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-11T17:42:26.379648+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psma5 has been classified as Red List (Low Evidence).",
"entity_name": "PSMA5",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:52:00.201757+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:51:17.028767+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:50:46.713644+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:50:01.507920+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:49:33.934766+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Developmental and epileptic encephalopathy 115, MIM#620783",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:48:12.362648+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:47:22.739335+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNF8 as Green List (high evidence)",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:47:22.720490+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snf8 has been classified as Green List (High Evidence).",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:46:39.764874+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:45:50.962299+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:45:11.612366+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNF8: Changed rating: AMBER",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:44:53.870267+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:44:01.900230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-04-10T21:43:35.038199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNF8",
"entity_type": "gene"
}
]
}