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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=201",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=199",
"results": [
{
"created": "2025-07-04T22:43:09.605553+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.92",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: LGI1 as ready",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:43:09.597956+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.92",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: lgi1 has been classified as Red List (Low Evidence).",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:42:48.555636+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.92",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LGI1 was added\ngene: LGI1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: LGI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LGI1 were set to PMID:40455867\nPhenotypes for gene: LGI1 were set to Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related\nReview for gene: LGI1 was set to GREEN\nAdded comment: PMID: 40455867 report patients with biallelic variants in 6 individuals from 4 consanguineous families with a more severe DEE phenotype. All indivduals had seizures, global dev delay/ID and generalised hypotonia. Four out of five exhibited spasticity. \nSources: Literature",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:41:40.046821+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.185",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LGI1 was added\ngene: LGI1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LGI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LGI1 were set to PMID:40455867\nPhenotypes for gene: LGI1 were set to Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related\nReview for gene: LGI1 was set to GREEN\nAdded comment: PMID: 40455867 report patients with biallelic variants in 6 individuals from 4 consanguineous families with a more severe DEE phenotype. All indivduals had seizures, global dev delay/ID and generalised hypotonia. Four out of five exhibited spasticity. \nSources: Literature",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:38:02.074021+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.163",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512 to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:37:15.491639+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.162",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: LGI1 were set to 18711109; 12205652; 15079010; 22496201; PMID:40455867",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:36:59.674380+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.161",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: LGI1 were set to 18711109; 12205652; 15079010; 22496201",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:36:43.525266+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.161",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Mode of inheritance for gene: LGI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:36:05.423130+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.160",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:40455867; Phenotypes: Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related, Epilepsy, familial temporal lobe, 1, MIM# 6000512; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:34:05.315716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2691",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:34:00.157897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2690",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512 to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:33:19.635580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2689",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Mode of inheritance for gene: LGI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:32:51.116724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2688",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40455867; Phenotypes: Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:52.232969+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.160",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: ELFN1 as Green List (high evidence)",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:52.226517+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.160",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Green List (High Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:41.745063+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.159",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: ELFN1 as ready",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:41.733831+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.159",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Red List (Low Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:30.250325+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: ELFN1 as Green List (high evidence)",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:30.243452+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Green List (High Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:14.563352+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.90",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: ELFN1 as Green List (high evidence)",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:14.556132+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.90",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Green List (High Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:09.540146+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.89",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: ELFN1 as ready",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:07:09.531749+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.89",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Red List (Low Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:59.752868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2688",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: ELFN1 as Green List (high evidence)",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:59.744756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2688",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Green List (High Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:59.728093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2687",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: ELFN1 as ready",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:59.718938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2687",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Red List (Low Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:28.721508+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: ELFN1 as Green List (high evidence)",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:28.713181+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Green List (High Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:27.702683+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.208",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: ELFN1 as ready",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:05:27.693488+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.208",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Red List (Low Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:04:59.101018+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.41",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: ELFN1 as ready",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:04:59.094499+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.41",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Green List (High Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:04:46.373051+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.41",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: ELFN1 as Green List (high evidence)",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:04:46.366452+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.41",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: elfn1 has been classified as Green List (High Evidence).",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:04:00.501253+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.40",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ELFN1 was added\ngene: ELFN1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELFN1 were set to PMID:40576023\nPhenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELFN1-related\nReview for gene: ELFN1 was set to GREEN\nAdded comment: PMID: 40576023 report 8 individuals from 5 unrelated families and 6 previously reported patients from 2 families. Most patients had homozygous biallelic deletions / PTCs in ELFN1 (including one involving 5'UTR). One family had biallelic missense variants,\r\n\r\nAll patients had dev delay/ID. Other features included autism/ADHD/behavioural issues, hypotonia/muscle weakness, paediatric-onset ataxia/movement disorder and epilepsy.\r\n\r\nSupportive functional modelling in mice and zebrafish. Some emerging evidence for haploinsufficiency. \nSources: Literature",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:02:58.335476+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.89",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ELFN1 was added\ngene: ELFN1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELFN1 were set to PMID: 40576023\nPhenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELFN1-related\nReview for gene: ELFN1 was set to GREEN\nAdded comment: PMID: 40576023 report 8 individuals from 5 unrelated families and 6 previously reported patients from 2 families. Most patients had homozygous biallelic deletions / PTCs in ELFN1 (including one involving 5'UTR). One family had biallelic missense variants,\r\n\r\nAll patients had dev delay/ID. Other features included autism/ADHD/behavioural issues, hypotonia/muscle weakness, paediatric-onset ataxia/movement disorder and epilepsy.\r\n\r\nSupportive functional modelling in mice and zebrafish. Some emerging evidence for haploinsufficiency. \nSources: Literature",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:02:08.829077+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.159",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ELFN1 was added\ngene: ELFN1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELFN1 were set to PMID:40576023\nPhenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELFN1-related\nReview for gene: ELFN1 was set to GREEN\nAdded comment: PMID: 40576023 report 8 individuals from 5 unrelated families and 6 previously reported patients from 2 families. Most patients had homozygous biallelic deletions / PTCs in ELFN1 (including one involving 5'UTR). One family had biallelic missense variants,\r\n\r\nAll patients had dev delay/ID. Other features included autism/ADHD/behavioural issues, hypotonia/muscle weakness, paediatric-onset ataxia/movement disorder and epilepsy.\r\n\r\nSupportive functional modelling in mice and zebrafish. Some emerging evidence for haploinsufficiency. \nSources: Literature",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T22:00:55.346623+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.208",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ELFN1 was added\ngene: ELFN1 was added to Autism. Sources: Literature\nMode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELFN1 were set to PMID:40576023\nPhenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELFN1-related\nReview for gene: ELFN1 was set to GREEN\nAdded comment: PMID: 40576023 report 8 individuals from 5 unrelated families and 6 previously reported patients from 2 families. Most patients had homozygous biallelic deletions / PTCs in ELFN1 (including one involving 5'UTR). One family had biallelic missense variants,\r\n\r\nAll patients had dev delay/ID. Other features included autism/ADHD/behavioural issues, hypotonia/muscle weakness, paediatric-onset ataxia/movement disorder and epilepsy.\r\n\r\nSupportive functional modelling in mice and zebrafish. Some emerging evidence for haploinsufficiency. \nSources: Literature",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:57:24.712114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2687",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ELFN1 was added\ngene: ELFN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELFN1 were set to PMID: 40576023\nPhenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELFN1-related\nReview for gene: ELFN1 was set to GREEN\nAdded comment: PMID: 40576023 report 8 individuals from 5 unrelated families and 6 previously reported patients from 2 families. Most patients had homozygous biallelic deletions / PTCs in ELFN1 (including one involving 5'UTR). One family had biallelic missense variants, \r\n\r\nAll patients had dev delay/ID. Other features included autism/ADHD/behavioural issues, hypotonia/muscle weakness, paediatric-onset ataxia/movement disorder and epilepsy. \r\n\r\nSupportive functional modelling in mice and zebrafish. Some emerging evidence for haploinsufficiency. \nSources: Literature",
"entity_name": "ELFN1",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:48:23.483961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2686",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TEX14 as ready",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:48:23.477277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2686",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tex14 has been classified as Green List (High Evidence).",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:47:10.581493+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TEX14 as ready",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:47:10.573876+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tex14 has been classified as Green List (High Evidence).",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:46:33.332555+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TEX14 as Green List (high evidence)",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:46:33.325868+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tex14 has been classified as Green List (High Evidence).",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:46:25.531008+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TEX14 was added\ngene: TEX14 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TEX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEX14 were set to 16549803; 40492599; 28206990; 29790874; 36017582\nPhenotypes for gene: TEX14 were set to Spermatogenic failure MONDO:0004983, TEX14-related\nReview for gene: TEX14 was set to GREEN\nAdded comment: Multiple probands reported with biallelic LoF variants and a supporting mouse model. \nSources: Literature",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:45:40.067884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2686",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TEX14 as Green List (high evidence)",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:45:40.060928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2686",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tex14 has been classified as Green List (High Evidence).",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:45:21.625564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2685",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TEX14 was added\ngene: TEX14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TEX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEX14 were set to 16549803; 40492599; 28206990; 29790874; 36017582\nPhenotypes for gene: TEX14 were set to Spermatogenic failure MONDO:0004983, TEX14-related\nReview for gene: TEX14 was set to GREEN\nAdded comment: Multiple probands reported with biallelic LoF variants and a supporting mouse model. \nSources: Literature",
"entity_name": "TEX14",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:12:04.317063+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WDR91 as ready",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:12:04.310525+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr91 has been classified as Green List (High Evidence).",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:11:57.910367+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR91 as Green List (high evidence)",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:11:57.903167+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr91 has been classified as Green List (High Evidence).",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:11:11.602359+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR91 was added\ngene: WDR91 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR91 were set to 32732226; 38041506; 34791078; 40550703; 28860274; 34028500; ClinVar: SCV000965687.1\nPhenotypes for gene: WDR91 were set to Complex neurodevelopmental disorder MONDO:0100038\nReview for gene: WDR91 was set to GREEN\nAdded comment: Homozygous LoF variants were identified in at least 5 families with a mainly neurodevelopmental disorder phenotype. Also, supporting mouse models\r\n1. Brain malformation\r\n2. Severe developmental delay, microcephaly, severe microlissencephaly, agenesis of corpus callosum, epilepsy, spastic tetraparesis, laryngomalacia, bicuspid aortic valve, congenital hip dislocation, growth retardation, dysmorphisms\r\n3. Severe microcephaly, dysmorphic features, and organomegaly, along with early onset psychomotor delay, hypotonia, sensorineural hearing impairment, and visual impairment\r\n4. Hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, interventricular\r\ncommunication\r\n5. Neurodevelopmental disorder with brain malformations and multiple congenital anomalies \nSources: Literature",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:09:20.985659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2684",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: WDR91 were changed from Hydrocephalus; cerebellar hypoplasia; hygroma to Complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:09:05.035422+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.377",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: WDR91 were changed from Hydrocephaly; Hygroma to Complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:08:46.441115+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.376",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: WDR91 were set to 32732226; 34028500; 28860274",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:08:33.700405+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR91 as Green List (high evidence)",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:08:33.692333+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr91 has been classified as Green List (High Evidence).",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:08:23.240264+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.374",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: WDR91: Rating: GREEN; Mode of pathogenicity: None; Publications: 32732226, 38041506, 34791078, 40550703, 28860274, 34028500, ClinVar: SCV000965687.1; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:08:16.641209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2683",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: WDR91 were set to 34028500; 28860274; 32732226; 28969387",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:04:41.758906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2682",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR91 as Green List (high evidence)",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:04:41.752827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2682",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr91 has been classified as Green List (High Evidence).",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T21:04:24.320427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2681",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: WDR91: Rating: GREEN; Mode of pathogenicity: None; Publications: 32732226, 38041506, 34791078, 40550703, 28860274, 34028500, ClinVar: SCV000965687.1; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR91",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:35:28.426032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Red List (low evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:35:28.419648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Red List (Low Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:34:40.014606+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Red List (low evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:34:40.006888+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Red List (Low Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:26:24.215505+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Red List (low evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:26:24.209231+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Red List (Low Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:25:04.310970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD1 as Amber List (moderate evidence)",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:25:04.304487+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:23:52.525307+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD1 as Amber List (moderate evidence)",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:23:52.517676+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:23:12.266210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD1 as Amber List (moderate evidence)",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:23:12.248787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:22:44.410580+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADD1 as Amber List (moderate evidence)",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:22:44.401404+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:21:23.200877+10:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOC2 as ready",
"entity_name": "APOC2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:21:23.179445+10:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOC2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:21:18.536774+10:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOC2 as Amber List (moderate evidence)",
"entity_name": "APOC2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:21:18.526615+10:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOC2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:20:36.735494+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH11 as ready",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:20:36.729157+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh11 has been classified as Green List (High Evidence).",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:20:32.467300+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDH11 as Green List (high evidence)",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:20:32.457618+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh11 has been classified as Green List (High Evidence).",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:19:22.077651+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM23 as ready",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:19:22.067703+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:19:16.500692+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM23 as Amber List (moderate evidence)",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:19:16.493886+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:18:38.489607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM23 as ready",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:18:38.480110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:18:27.726397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM23 as Amber List (moderate evidence)",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:18:27.719339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:17:58.777725+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM23 as ready",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:17:58.766032+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:17:52.761693+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM23 as Amber List (moderate evidence)",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:17:52.755348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:15:29.166701+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIDT2 as ready",
"entity_name": "SIDT2",
"entity_type": "gene"
}
]
}