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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=450",
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"results": [
{
"created": "2024-05-22T06:49:10.209244+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Green List (High Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:49:06.764899+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:48:26.538724+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF4 were set to ",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:47:47.450972+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:47:09.709453+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The association with Pitt-Hopkins syndrome is well established.\r\n\r\nCorneal dystrophy is associated with STR.; to: The association with Pitt-Hopkins syndrome is well established. Seizures are part of the phenotype.\r\n\r\nCorneal dystrophy is associated with STR.",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:46:35.618377+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBL1XR1 as ready",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:46:35.600004+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1xr1 has been classified as Green List (High Evidence).",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:46:31.937947+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBL1XR1 were changed from to Intellectual disability, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:45:53.294143+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBL1XR1 were set to ",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:45:15.257367+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:44:36.343164+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBL1XR1: Changed phenotypes: Intellectual disability, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:43:22.438117+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:43:22.429541+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:43:15.541281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2024-05-22T06:42:30.177641+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2024-05-22T00:53:03.218695+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Santosh Varughese",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 8040304, 23835273, 25835712, 7825602, 7581394, 8566952, 11748843, 7825602; Phenotypes: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-05-21T22:42:40.503989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Tinashe Nhindiri",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34353676, 38233770, 30171078; Phenotypes: Epileptic encephalopathy, Developmental delay, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-21T22:26:13.852112+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Lovepreet Gill",
"item_type": "entity",
"text": "reviewed gene: SLX4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 21240277, 21240275, 23093618, 26453996); Phenotypes: Franconia anemia, complementation group P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-21T22:07:55.121045+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Adam Ivey",
"item_type": "entity",
"text": "reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29914390, 11274232, 15930088; Phenotypes: OMIM:604278-RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2024-05-21T21:06:44.066512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "David Fairbairn",
"item_type": "entity",
"text": "changed review comment from: Main mutation mechanism: truncated proteins, potent dominant-negative activity and more severe phenotype only when escapes NMD. Decipher: SOX 10 copy number losses and gains associated with intellectual disability. PCWH Gene2Phenotype: monoallelic-altered gene product structure, DD definitive. Waardenburg syndrome, type 2E Gene2Phenotype: monoallelic-absent gene product, DD definitive. GenCC definitive. OMIM #609136: dominant-negative heterozygous SOX 10 variants in multiple (>3) unrelated cases resulting in neurologic features.; to: Main mutation mechanism: truncated proteins, potent dominant-negative activity and more severe phenotype only when escapes NMD. Decipher: SOX 10 copy number losses and gains associated with intellectual disability. PCWH Gene2Phenotype: monoallelic-altered gene product structure, DD definitive. Waardenburg syndrome, type 2E Gene2Phenotype: monoallelic-absent gene product, DD definitive. GenCC definitive. OMIM #609136: dominant-negative heterozygous SOX 10 variants in multiple (>3) unrelated cases resulting in neurologic features.",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-21T20:59:24.873626+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "David Fairbairn",
"item_type": "entity",
"text": "reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10762540, 34667088, 38132479; Phenotypes: PCWH (Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease) syndrome (OMIM #609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-21T20:01:22.329307+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Shani Stuart",
"item_type": "entity",
"text": "reviewed gene: ROR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33937263, 32954672, 32172608; Phenotypes: Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-21T18:14:47.836276+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Alyson Lewis",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31527857, PMID: 26870663; Phenotypes: Impaired intellectual development, mild, Learning disabilities, Delayed motor development; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2024-05-21T16:57:52.898590+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28055140, 9781023, 32799315, 35765291; Phenotypes: MEHMO syndrome MONDO:0010258; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2024-05-21T16:14:43.902510+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20202148, 11997520, 16813601, 10932183, 37873802, 36106422; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-05-21T16:06:14.896506+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7490992, 33693650, 34792487; Phenotypes: Wolfram syndrome 1 MONDO:0009101, type 1 diabetes mellitus MONDO:0005147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2024-05-21T15:46:01.299415+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "edited their review of gene: PPP1R15B: Changed rating: AMBER",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2024-05-21T15:44:59.546251+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: IL2RA: Rating: AMBER; Mode of pathogenicity: None; Publications: 15776395, 17196245; Phenotypes: immunodeficiency due to CD25 deficiency MONDO:0011664, neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL2RA",
"entity_type": "gene"
},
{
"created": "2024-05-21T15:18:30.416903+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Leanne Baxter",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:27666369: PMID:17699660: PMID:34356170: PMID: 34134906; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207, Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410, Kenny-Caffey syndrome, type 1 MIM:244460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-05-21T15:03:35.983106+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028826, 10587585, 17250669, 37843397; Phenotypes: familial partial lipodystrophy, Dunnigan type MONDO:0007906, type 2 diabetes mellitus MONDO:0005148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:47:16.035544+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2764",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:46:45.524231+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2763",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: WASF1 were set to 29961568; 34845217; 34478686; 34356165",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:46:36.433596+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2763",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: WASF1 as ready",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:46:36.408373+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2763",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: wasf1 has been classified as Green List (High Evidence).",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:46:14.028615+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2763",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:45:39.098495+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2763",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:45:08.711434+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2763",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: WASF1 were set to ",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:44:31.001663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2762",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:43:55.121214+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2762",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:43:21.136452+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2762",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: WASF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WASF1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:42:49.004076+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2761",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:42:11.544111+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2761",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR45 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:41:31.930378+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2761",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: WDR45 were set to 23176820; 30842224",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:41:29.530647+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2760",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:41:29.488556+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2760",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:40:58.573095+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2760",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:40:29.455146+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2760",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: WDR45 were set to ",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:39:53.458989+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2760",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:29:59.776979+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:29:27.494858+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:28:54.870784+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:28:43.288269+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNJ1 as ready",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:28:43.273504+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: synj1 has been classified as Green List (High Evidence).",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:28:15.544449+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530 to Developmental and epileptic encephalopathy 53, MIM# 617389",
"entity_name": "SYNJ1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:27:34.994156+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:27:02.964226+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2759",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: WDR73 were set to 25466283; 26123727; 25873735; 26070982; 30315938",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:26:40.637104+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: WDR73 as ready",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:26:40.622234+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:26:25.697269+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MIM#251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:25:37.551379+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: WDR73 were set to ",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:25:34.025245+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "changed review comment from: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal\r\n\r\n25468195: 1 patient T1DM\r\n26768763: 5 patients with T1DM\r\n27057999: 1 patient T1DM at 20months\r\n26745254: 2 patients with T1DM, 1 at 2 years, one at infancy\r\n25479458: 1 patient T1DM at 6 years\r\n28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes)\r\n26206937: 2 patient T1Dm, 2 years and 18months; to: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal\r\n\r\n25468195: 1 patient T1DM\r\n26768763: 5 patients with T1DM\r\n27057999: 1 patient T1DM at 20months\r\n26745254: 2 patients with T1DM, 1 at 2 years, one at infancy\r\n25479458: 1 patient T1DM at 6 years\r\n28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes)\r\n26206937: 2 patient T1Dm, 2 years and 18months\r\nall with AR null LRBA variants",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:25:12.136162+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25468195, 26768763, 27057999, 26745254, 25479458, 28473463, 26206937; Phenotypes: type 1 diabetes mellitus MONDO:0005147, neonatal diabetes mellitus MONDO:0016391, combined immunodeficiency due to LRBA deficiency MONDO:0013863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:25:01.759748+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2758",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:23:33.722125+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB18 as ready",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:23:33.712779+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab18 has been classified as Green List (High Evidence).",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:23:19.796783+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:22:34.078721+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB18 were set to ",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:21:51.160080+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:21:08.510699+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln; to: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln. Seizures are part of the phenotype.",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:19:58.400275+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:19:58.383137+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:19:16.427286+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A3 were set to ",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:18:18.740391+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:17:37.411028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:16:30.224987+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB20 as ready",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:16:30.210359+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb20 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:16:26.825042+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB20 were changed from Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050 to Primrose syndrome MONDO:0009798; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:16:12.740055+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB20 were set to 20644156; 25017102",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:15:36.542537+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:15:36.525868+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:15:34.163892+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome MONDO:0010026; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:14:53.053057+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R1 were set to 23810378",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:01:27.511861+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPECC1L as ready",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2024-05-21T14:01:27.497825+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: specc1l has been classified as Green List (High Evidence).",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2024-05-21T13:55:35.025519+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.121",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32879144, 32602265, 3651536, 34249805, 32439336; Phenotypes: SHORT syndrome MONDO:0010026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2024-05-21T12:22:37.044259+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.121",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27061120, 25017102, 29737001, 38087819, 32473227, 30637921, 32266967; Phenotypes: Primrose syndrome MONDO:0009798; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB20",
"entity_type": "gene"
},
{
"created": "2024-05-21T12:07:56.807873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "changed review comment from: Rare disorder of thiamine metabolism and transport. Has well characterised gene-phenotype link in more than 3 families (multiple publications, in different subpopulations). Many symptoms in this disorder, for example confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and dysphagia. ID has been described as a sequela in many cases.; to: Rare disorder of thiamine metabolism and transport. Has well characterised gene-phenotype link for THMD2 in more than 3 families (multiple publications, in different subpopulations). Many CNS related symptoms in this disorder, for example confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and dysphagia. ID has been described as a sequela in many cases. ",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-05-21T12:03:14.571663+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15871139, PMID: 34276785, PMID: 23482991, PMID: 20065143; Phenotypes: # 607483 BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE (BBTGD), THIAMINE METABOLISM DYSFUNCTION SYNDROME 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2024-05-21T11:35:35.226752+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SASS6 as ready",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2024-05-21T11:35:35.214185+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sass6 has been classified as Green List (High Evidence).",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2024-05-21T11:35:13.189412+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SASS6 as Green List (high evidence)",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2024-05-21T11:35:13.179593+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sass6 has been classified as Green List (High Evidence).",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2024-05-21T11:34:28.196560+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SASS6 was added\ngene: SASS6 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SASS6 were set to 24951542; 30639237\nPhenotypes for gene: SASS6 were set to Microcephaly 14, primary, autosomal recessive, MIM# 616402\nReview for gene: SASS6 was set to GREEN\nAdded comment: At least 3 unrelated families reported, severe ID is part of the phenotype. \nSources: Expert Review",
"entity_name": "SASS6",
"entity_type": "gene"
},
{
"created": "2024-05-21T11:13:40.714446+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.121",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 20814950, 18435794, 36927562, 31856865; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MONDO:0012074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-05-21T10:37:06.715030+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.121",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: 9553082, 21990100, 35070570; Phenotypes: rhizomelic chondrodysplasia punctata type 3 MONDO:0010823; Mode of inheritance: Unknown",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-05-21T09:31:40.591595+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPECC1L were changed from to Teebi hypertelorism syndrome 1, MIM# 145420",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2024-05-21T09:31:05.121023+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPECC1L were set to ",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2024-05-21T09:29:44.794937+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2024-05-21T09:29:01.520367+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Teebi hypertelorism syndrome 1, MIM# 145420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2024-05-20T22:32:32.840053+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5873",
"user_name": "Ibrahim El-Deek",
"item_type": "entity",
"text": "changed review comment from: There is paucity of literature directly linking SPECC1L variants to intellectual disability and developmental delay. However, Zhang et al. (PMID: 31953237) reviewed 33 patients from 14 families with SPECC1L variants, noting that the most common features were dysmorphic facial characteristics. Developmental delays were reported in 24.2% of patients (8/33), with some achieving normal development during childhood.; to: There is paucity of literature directly linking SPECC1L variants to intellectual disability and developmental delay. However, Zhang et al. (PMID: 31953237) reviewed 33 patients from 14 families with SPECC1L variants (including 10 missense point mutation and 1 deletion), noting that the most common features were dysmorphic facial characteristics. Developmental delays were reported in 24.2% of patients (8/33), with some achieving normal development during childhood.",
"entity_name": "SPECC1L",
"entity_type": "gene"
}
]
}