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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=310",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=308",
"results": [
{
"created": "2025-01-16T16:53:10.827204+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:52:29.106608+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A5 as ready",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:52:29.080516+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:52:21.979771+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile, 269920 (3) to Sialic acid storage disorder, infantile (MIM#269920)",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:52:09.090135+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC17A5 were set to ",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:51:37.090114+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A19 as ready",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:51:37.072795+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:51:32.607677+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A19 were changed from Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710 to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710); Microcephaly, Amish type (MIM#607196)",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:51:13.854468+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A19 were set to ",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:50:18.849636+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A46 as ready",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:50:18.838272+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a46 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:50:14.992889+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive to Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505); Pontocerebellar hypoplasia, type 1E (MIM# 619303)",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:50:00.606509+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A46 were set to ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:25:34.652399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A1 as Amber List (moderate evidence)",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:25:34.633844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:17:10.944658+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A1 were set to 36175384",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:16:33.831337+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A1 as Amber List (moderate evidence)",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:16:33.808967+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:48:44.418383+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIL as ready",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:48:44.406972+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stil has been classified as Green List (High Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:48:40.166157+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIL were changed from Microcephaly 7, primary, autosomal recessive, 612703 (3) to Microcephaly 7, primary, (MIM# 612703)",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:48:27.286914+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIL were set to ",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:39:42.179924+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GTF3C3 was added\ngene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF3C3 were set to PMID: 39636576\nPhenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related\nReview for gene: GTF3C3 was set to GREEN\nAdded comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations. \nSources: Literature",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:39:07.627485+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GTF3C3 was added\ngene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF3C3 were set to PMID: 39636576\nPhenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related\nReview for gene: GTF3C3 was set to GREEN\nAdded comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations. \nSources: Literature",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:38:09.741596+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GTF3C3 was added\ngene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF3C3 were set to PMID: 39636576\nPhenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related\nAdded comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations. \nSources: Literature",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:37:02.389196+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39636576; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:34:34.362501+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:34:34.314657+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:34:06.847057+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:34:06.825817+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:33:32.622787+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:33:32.596443+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:33:27.450897+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:33:27.438845+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:33:02.622123+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:33:02.598715+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:32:51.110638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:32:51.078898+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:32:30.372272+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:32:30.359669+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:31:57.345635+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:31:57.322153+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:31:57.314705+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:31:57.274626+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:31:07.697500+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:31:07.674512+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:30:25.126860+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:30:25.030495+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:30:24.830044+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:30:24.798914+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.96",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:28:46.140040+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.294",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:28:46.123659+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.294",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:28:31.718115+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.76",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INPP4A was added\ngene: INPP4A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to PMID: 39315527\nPhenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder\nReview for gene: INPP4A was set to GREEN\nAdded comment: PMID: 39315527\r\n30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).\r\n\r\nCardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4. \r\n\r\nPreliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain. \nSources: Literature",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:28:29.947678+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INPP4A was added\ngene: INPP4A was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to PMID: 39315527\nPhenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder\nReview for gene: INPP4A was set to GREEN\nAdded comment: PMID: 39315527\r\n30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).\r\n\r\nCardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4. \r\n\r\nPreliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain. \nSources: Literature",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:28:29.947035+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:28:29.883789+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:27:32.814067+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.85",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INPP4A was added\ngene: INPP4A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to PMID: 39315527\nPhenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder\nReview for gene: INPP4A was set to GREEN\nAdded comment: PMID: 39315527\r\n30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).\r\n\r\nCardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4. \r\n\r\nPreliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain. \nSources: Literature",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:27:03.186937+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.293",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INPP4A was added\ngene: INPP4A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to PMID: 39315527\nPhenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder\nReview for gene: INPP4A was set to GREEN\nAdded comment: PMID: 39315527\r\n30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).\r\n\r\nCardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4. \r\n\r\nPreliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain. \nSources: Literature",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:26:57.551214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:26:57.537150+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:26:40.454804+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.95",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: INPP4A was added\ngene: INPP4A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to PMID: 39315527\nPhenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder\nReview for gene: INPP4A was set to GREEN\nAdded comment: PMID: 39315527\r\n30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).\r\n\r\nCardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4. \r\n\r\nPreliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain. \nSources: Literature",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:25:47.195404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2259",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: INPP4A as Green List (high evidence)",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:25:47.183164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2259",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: inpp4a has been classified as Green List (High Evidence).",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:25:18.615910+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39315527; Phenotypes: INPP4A-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T15:24:59.370537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2258",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39315527; Phenotypes: INPP4A-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:28:05.256892+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYP as ready",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:28:05.238410+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syp has been classified as Green List (High Evidence).",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:28:01.013682+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96, 300802 (3) to Intellectual developmental disorder, X-linked 96 (MIM#300802)",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:27:47.737716+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYP were set to ",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:27:32.737810+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYP",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:24:12.683372+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIAS as ready",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:24:12.656636+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lias has been classified as Green List (High Evidence).",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:24:08.827624+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIAS were changed from Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3) to Hyperglycinaemia, lactic acidosis, and seizures MIM#614462",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:23:52.701778+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIAS were set to ",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:23:20.975106+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LPL as ready",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:23:20.962425+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpl has been classified as Green List (High Evidence).",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:23:17.123515+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:22:50.634391+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRBA as ready",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:22:50.607315+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrba has been classified as Green List (High Evidence).",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:22:46.342140+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:22:30.061867+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRBA were set to ",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:21:38.727372+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:21:38.714419+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Green List (High Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:21:34.920207+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, 252650 (3) to Mucolipidosis IV MIM#252650",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:21:21.881907+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCOLN1 were set to ",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:20:54.526761+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMACHC as ready",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:20:54.496507+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:20:44.798270+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:20:32.394779+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMACHC were set to ",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:20:03.460837+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGS as ready",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:20:03.442530+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nags has been classified as Green List (High Evidence).",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:19:57.914130+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGS were changed from N-acetylglutamate synthase deficiency, 237310 (3) to N-acetylglutamate synthase deficiency MIM#237310",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:19:41.911739+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAGS were set to ",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:19:05.291405+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS7 as ready",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:19:05.259974+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs7 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:18:59.741520+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS7 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:18:42.950302+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS7 were set to ",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:18:13.493604+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX6-2 as ready",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:18:13.454415+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx6-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2025-01-16T14:18:09.732283+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3) to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
}
]
}