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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=145",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=143",
"results": [
{
"created": "2025-10-23T11:52:03.594862+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Enhanced S-cone syndrome 2, MIM# 621371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:47:56.284693+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRRM2 as Green List (high evidence)",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:47:56.271766+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Green List (High Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:47:46.201484+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRRM2 as ready",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:47:46.193616+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Green List (High Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:47:13.490878+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRRM2 as Green List (high evidence)",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:47:13.478541+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Green List (High Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2025-10-23T11:46:05.346923+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRRM2 was added\ngene: SRRM2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRRM2 were set to 40967764\nPhenotypes for gene: SRRM2 were set to Intellectual developmental disorder, autosomal dominant 72, MIM#\t620439\nReview for gene: SRRM2 was set to GREEN\nAdded comment: Four de novo loss-of-function (LoF) variants in SRRM2 were identified in 4 out of 71 patients with persistent tachypnoea of infancy, suggesting this is part of the phenotypic spectrum for this condition. All four had mild DD/ID. \nSources: Literature",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2025-10-23T01:03:03.129808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3453",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: KCTD15 was added\ngene: KCTD15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCTD15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCTD15 were set to 38296633\nPhenotypes for gene: KCTD15 were set to frontonasal dysplasia, MONDO:0016643\nMode of pathogenicity for gene: KCTD15 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: KCTD15 was set to AMBER\nAdded comment: PMID:38296633 (2024) reported a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease. A heterozygous c.310G>C variant encoding p.(Asp104His) within the BTB domain of KCTD15 was identified in the affected father and daughter via exome sequencing and the variant segregated with the phenotype. A de novo heterozygous c.263G>A variant encoding p.(Gly88Asp) was identified via targeted DNA sequencing in a similarly affected sporadic patient.\r\n\r\nThere is some functional evidence available from structural analyses, which demonstrated that missense substitutions act through a dominant negative mechanism by disrupting the higher order structure of the KCTD15 protein complex. \nSources: Literature",
"entity_name": "KCTD15",
"entity_type": "gene"
},
{
"created": "2025-10-21T22:10:49.087490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3453",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: RIPOR2: Added comment: PMID: 37864412 - a distinct homozygous LOF variant (c.1561C>T (p.Arg521*)) in exon 14 of the RIPOR2 gene was identified by WES in three siblings from a consanguineous Tunisian family with non-syndromic bilateral profound hearing and vestibular dysfunctions. Parents were unaffected heterozygous carriers. No other variants in hearing loss genes were found. Zebrafish model with a stop codon inserted within ripor2 exon 14 showed that F2 larva did not exhibit a different hearing or balance behaviour compared to wild-type.; Changed publications: 24958875, 32631815, 37864412; Changed phenotypes: Deafness, autosomal dominant 21, OMIM:607017, Deafness, autosomal recessive 104, OMIM:616515; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2025-10-21T19:38:22.935472+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461 to Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2025-10-21T19:37:29.190680+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461 to Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2025-10-21T19:35:05.069399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM#\t620461 to Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:58:58.605132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXT2 were changed from Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 to Exostoses, multiple, type 2 MIM#133701; Seizures, scoliosis, and macrocephaly syndrome, MIM#616682",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:51:51.863547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700 to NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:51:08.087750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRC4 were changed from Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050 to periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0014472",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:50:03.086117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NMNAT1 were changed from Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM# 608553 to NMNAT1-related retinopathy MONDO:0800101; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM# 608553",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:49:01.943185+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570) to NOG-related symphalangism spectrum disorder MONDO:0100521",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:48:48.692274+11:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOG: Changed phenotypes: NOG-related symphalangism spectrum disorder MONDO:0100521",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:48:20.610293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570) to NOG-related symphalangism spectrum disorder MONDO:0100521",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:48:04.261619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: NOG-related symphalangism spectrum disorder MONDO:0100521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:46:29.220383+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOG as ready",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:46:29.210722+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nog has been classified as Green List (High Evidence).",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:46:25.724384+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from Stapes ankylosis with broad thumb and toes 184460; Symphalangism, proximal, 1A 185800; Multiple synostoses syndrome 1 186500; Tarsal-carpal coalition syndrome 186570; Brachydactyly, type B2 611377 to NOG-related symphalangism spectrum disorder MONDO:0100521",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:46:06.493334+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NOG-related symphalangism spectrum disorder MONDO:0100521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:45:32.993250+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from NOG-related symphalangism spectrum disorder MONDO:0100521 to NOG-related symphalangism spectrum disorder MONDO:0100521",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:45:16.335534+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOG as ready",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:45:16.324201+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nog has been classified as Green List (High Evidence).",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:44:09.374195+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from Tarsal-carpal coalition syndrome 186570; Stapes ankylosis with broad thumb and toes 184460; Brachydactyly, type B2 611377; Symphalangism, proximal, 1A 185800; Multiple synostoses syndrome 1 186500 to NOG-related symphalangism spectrum disorder MONDO:0100521",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:43:17.309819+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOG were set to ",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:42:25.038019+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NOG-related symphalangism spectrum disorder MONDO:0100521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T18:41:59.862648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570) to NOG-related symphalangism spectrum disorder MONDO:0100521",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T09:37:58.041083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872122, 19177160; Phenotypes: Nephronophthisis MONDO:0019005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2025-10-21T09:28:50.712159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 1 MONDO:0009728; Mode of inheritance: None",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2025-10-21T09:26:07.510331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acroosteolysis dominant type MONDO:0007057, Alagille syndrome MONDO:0007318; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2025-10-21T09:18:09.922639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NOG: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: NOG-related symphalangism spectrum disorder MONDO:0100521; Mode of inheritance: None",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2025-10-21T09:10:58.077992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NMNAT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: NMNAT1-related retinopathy MONDO:0800101; Mode of inheritance: None",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2025-10-21T08:06:42.567853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NLRC4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0014472; Mode of inheritance: None",
"entity_name": "NLRC4",
"entity_type": "gene"
},
{
"created": "2025-10-21T08:02:05.516350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: NKX2-1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2025-10-21T08:01:54.315409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Mode of inheritance: None",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:08:24.717899+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCB were changed from Neurodevelopmental disorder, MONDO:0700092, TBCB-related to Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:08:06.190395+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:07:50.138485+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCB were changed from Neurodevelopmental disorder, MONDO:0700092, TBCB-related to Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:07:35.626979+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:07:18.831999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCB were changed from Neurodevelopmental disorder, MONDO:0700092, TBCB-related to Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:06:53.970880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:06:36.822553+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCB were changed from Neurodevelopmental disorder, MONDO:0700092, TBCB-related to Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:06:10.943189+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:05:46.061534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCB were changed from Neurodevelopmental disorder, MONDO:0700092, TBCB-related to Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, MIM# 621382",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:05:28.716595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, MIM# 621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:05:10.180001+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCB were changed from Neurodevelopmental disorder, MONDO:0700092, TBCB-related to Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, MIM# 621382",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T19:04:39.029333+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, MIM# 621382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCB",
"entity_type": "gene"
},
{
"created": "2025-10-20T12:28:19.407488+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.28",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2025-10-20T09:21:50.140073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD5: Changed rating: GREEN",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2025-10-20T09:14:36.283690+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: KMT2B: Note ClinGen have lumped the dystonia and ID phenotypes as these overlap in the same families. Association considered DEFINITIVE.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2025-10-17T16:41:13.856327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: FSHR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 1 MIM#233300, Ovarian hyperstimulation syndrome MIM#608115; Mode of inheritance: None",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2025-10-17T16:32:34.488146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "commented on gene: FOXE3",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2025-10-17T16:22:20.577477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: EXT2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Exostoses, multiple, type 2 MIM#133701; Mode of inheritance: None",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2025-10-17T16:18:18.915259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RNH1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461; Mode of inheritance: None",
"entity_name": "RNH1",
"entity_type": "gene"
},
{
"created": "2025-10-17T16:08:53.432940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RMI2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome MONDO:0008876, RMI2-related; Mode of inheritance: None",
"entity_name": "RMI2",
"entity_type": "gene"
},
{
"created": "2025-10-17T16:06:02.705793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: RLBP1-related retinopathy MONDO:0100444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2025-10-17T16:01:11.673694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RIPK1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with episodic fever and lymphadenopathy MIM#618852; Mode of inheritance: None",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:54:37.420241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RING1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), RING1-related; Mode of inheritance: None",
"entity_name": "RING1",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:49:30.663747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy MONDO:0015993, RIMS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:11:45.530167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RHOH: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 129 MIM#618307; Mode of inheritance: None",
"entity_name": "RHOH",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:11:21.754430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX2 as ready",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:11:21.751005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Green for the association with skeletal disorder, Amber for association with deafness.",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:11:21.732308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Green List (High Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:10:24.819472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX2 were changed from Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223 to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Hearing loss disorder, MONDO:0005365, TBX2-related",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:09:56.306379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX2 as Green List (high evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:09:56.299371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Green List (High Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:09:21.783030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX2 as Amber List (moderate evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T15:09:21.775714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:49:17.535956+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.381",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBX2 as Amber List (moderate evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:49:17.526045+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.381",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:49:08.908177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.380",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBX2 as ready",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:49:08.900194+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.380",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Red List (Low Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:48:47.583048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.380",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBX2 was added\ngene: TBX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX2 were set to PMID: 36733940\nPhenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223\nReview for gene: TBX2 was set to AMBER\nAdded comment: PMID: 36733940 Rafeeq et al 2022 report a novel de novo nonsense variant (c.529A>T; p.Lys177*; NM_005994.4) in a child with chondrodysplasia. Skeletal features included spinal deformities, short limbs, metaphyseal and epiphyseal dysplasia, and bilateral developmental dislocation of the hip (DDH).\r\n\r\nGlobal developmental delay was also noted in this child. \nSources: Literature",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:46:33.436100+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.343",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBX2 as Green List (high evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:46:33.425400+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.343",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Green List (High Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:46:26.238885+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.342",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: TBX2 as ready",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:46:26.226342+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.342",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Red List (Low Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:46:10.825303+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.342",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TBX2 was added\ngene: TBX2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX2 were set to 29726930; 23727221; 20635360; 30223900; 36733940; 35311234\nPhenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223\nReview for gene: TBX2 was set to GREEN\nAdded comment: Skeletal anomalies are part of the phenotypic spectrum. \nSources: Literature",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:43:47.681573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3443",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TBX2 as Green List (high evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:43:47.668766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3443",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Green List (High Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:43:24.008747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3442",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: TBX2: Added comment: PMID: 36733940 Rafeeq et al 2022 report a novel de novo nonsense variant (c.529A>T; p.Lys177*; NM_005994.4) in a child with chondrodysplasia and GDD. Skeletal features included spinal deformities, short limbs, metaphyseal and epiphyseal dysplasia, and bilateral developmental dislocation of the hip (DDH). \r\n\r\nPMID: 35311234 Makitie et al 2022 report a three-generation Finnish family with autosomal dominant osteochondrodysplasia and empty sella. Affected individuals (age range 24-44 years) exhibited unusual codfish-shaped vertebrae, severe early-onset and debilitating osteoarthritis and an empty sella without endocrine abnormalities. Clinical characteristics also include mild dysmorphic features, reduced sitting height ratio, and obesity.; Changed rating: GREEN",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:18:42.879573+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A2 as ready",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:18:42.869309+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:18:35.016588+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A2 as Amber List (moderate evidence)",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:18:35.006822+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:18:23.566967+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A2 was added\ngene: SLC7A2 was added to Leukodystrophy - paediatric. Sources: Literature\nfounder tags were added to gene: SLC7A2.\nMode of inheritance for gene: SLC7A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A2 were set to 41015522\nPhenotypes for gene: SLC7A2 were set to Leukodystrophy, MONDO:0019046, SLC7A2-related\nReview for gene: SLC7A2 was set to AMBER\nAdded comment: RAVINE leukoencephalopathy (RLE) is a hereditary autosomal recessive disease characterized by typical clinical and radiological signs that has so far been observed only in patients of Reunionese origin. The term RAVINE is a French acronym for the main clinical features of the disease: Réunion, Anorexie, Vomissements Incoercibles, signes NEurologiques (Reunion, Anorexia, Intractable Vomiting, NEurological signs). Patients with RLE carry the IVS1-1778A>G mutation of the SLC7A2 gene in the homozygous state. Onset is in infancy. Death typically occurs before the age of 28months in a very narrow time window (23.0±2.2months).\r\n\r\nPMID 41015522 summarises data from 40 affected individuals. \nSources: Literature",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:18:09.457652+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A2 as ready",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:18:09.446627+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:17:28.607845+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A2 as Amber List (moderate evidence)",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:17:28.600639+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:17:05.172099+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A2 was added\ngene: SLC7A2 was added to Regression. Sources: Literature\nfounder tags were added to gene: SLC7A2.\nMode of inheritance for gene: SLC7A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A2 were set to 41015522\nPhenotypes for gene: SLC7A2 were set to Leukodystrophy, MONDO:0019046, SLC7A2-related\nReview for gene: SLC7A2 was set to AMBER\nAdded comment: RAVINE leukoencephalopathy (RLE) is a hereditary autosomal recessive disease characterized by typical clinical and radiological signs that has so far been observed only in patients of Reunionese origin. The term RAVINE is a French acronym for the main clinical features of the disease: Réunion, Anorexie, Vomissements Incoercibles, signes NEurologiques (Reunion, Anorexia, Intractable Vomiting, NEurological signs). Patients with RLE carry the IVS1-1778A>G mutation of the SLC7A2 gene in the homozygous state. Onset is in infancy. Death typically occurs before the age of 28months in a very narrow time window (23.0±2.2months).\r\n\r\nPMID 41015522 summarises data from 40 affected individuals. \nSources: Literature",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:15:41.125774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A2 as ready",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:15:41.118621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:15:33.411696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A2 as Amber List (moderate evidence)",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:15:33.404493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC7A2",
"entity_type": "gene"
}
]
}