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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1595",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1593",
"results": [
{
"created": "2020-09-12T13:16:24.968142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK3",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:16:06.581222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK3",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:14:32.998214+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK3",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:05:46.759930+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.\r\n\r\nNote the most common causative allele is a dodecamer repeat in the promoter region.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.\r\n\r\nNote the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:05:06.897510+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTB as ready",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:05:06.888572+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:05:04.676440+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTB were changed from Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:04:54.759650+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSTB were set to ",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:04:47.102110+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: CSTB.\nTag STR tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:04:31.584188+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:03:22.481982+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: CSTB.\nTag STR tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:03:07.710082+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: None",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T13:01:01.505176+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:56:31.529474+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSTB as ready",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:56:31.519138+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:56:29.088517+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTB were changed from Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:56:10.793123+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSTB were set to ",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:56:01.910334+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: CSTB.",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:55:49.802317+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:49:04.045139+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:49:04.036932+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Green List (High Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:48:45.867456+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:48:20.843408+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:48:08.904743+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:42:52.339649+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN5 as ready",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:42:52.330746+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:42:50.236933+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis neuronal 5 to Ceroid lipofuscinosis neuronal 5, MIM# 256731",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:42:33.776631+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:03:55.034257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP8A2 as ready",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:03:55.024076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:03:48.765536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP8A2 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:03:33.431401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP8A2 were set to ",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:03:19.146453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP8A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:03:03.426722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability. \nSources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability. \r\nSources: Expert list",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T12:00:13.425171+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia. \r\nSources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia. \r\nSources: Expert list",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:58:21.564755+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability. \nSources: Expert list; to: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia. \r\nSources: Expert list",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:54:25.124513+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:54:25.116342+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:54:21.753378+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:53:52.620301+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH5A1 were set to ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:53:29.500214+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:53:04.756611+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:50:47.553443+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from Succinate-semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:48:55.708075+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:48:55.699890+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:48:52.131576+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH5A1 were set to ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:48:40.797451+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:45:22.721228+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADPRHL2 was added\ngene: ADPRHL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nnew gene name tags were added to gene: ADPRHL2.\nMode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADPRHL2 were set to 30100084; 30401461\nPhenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170\nReview for gene: ADPRHL2 was set to GREEN\nAdded comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.\r\n\r\nNew HGNC approved name is ADPRS. \nSources: Expert Review",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:47.340467+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:47.336582+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:47.310000+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:38.555087+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ADPRHL2.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:11.715445+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:11.711829+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:11.693349+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:43:02.261881+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ADPRHL2.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:42:29.634311+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:42:29.629497+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:42:29.605113+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:42:11.283782+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ADPRHL2.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:42:00.554472+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:41:04.217919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:41:04.212374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:41:04.177977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:40:45.292552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ADPRHL2.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:38:11.835822+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADPRHL2 were set to ",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:38:02.141988+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:38:02.138008+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:38:02.113923+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:37:45.131936+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ADPRHL2.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:36:10.461811+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:36:06.371874+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADPRHL2: Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy; Changed publications: 30100084, 30401461",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:24:18.860175+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is part of the phenotype. \nSources: Expert list; to: Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be a presenting feature. Episodic ataxia also reported.\r\nSources: Expert list",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:22:56.476570+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACO2: Changed publications: 32519519",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:13:35.708238+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-12T11:07:17.182388+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:07:02.196851+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6H as ready",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:07:02.178034+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6h has been classified as Green List (High Evidence).",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:06:57.664338+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6H were set to ",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:06:50.294645+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6H was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-09-12T11:06:08.036593+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6, MIM# 610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:58:59.936916+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6C as ready",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:58:59.928846+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6c has been classified as Green List (High Evidence).",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:58:57.333747+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6C were changed from Achromatopsia-5 to Achromatopsia-5; Cone dystrophy 4, MIM# 613093",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:58:44.940779+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6C were set to ",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:58:30.301615+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:54:27.858316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGB3 as ready",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:54:27.848817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cngb3 has been classified as Green List (High Evidence).",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:54:21.218714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNGB3 were changed from to Achromatopsia 3, MIM# 262300",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:54:04.652665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNGB3 were set to ",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:53:48.286235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNGB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:53:31.545621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:52:27.383025+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGB3 as ready",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:52:27.372832+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cngb3 has been classified as Green List (High Evidence).",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:52:24.587796+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNGB3 were set to ",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:52:13.405577+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:46:14.562695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGA3 as ready",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:46:14.552668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnga3 has been classified as Green List (High Evidence).",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:46:08.650527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNGA3 were changed from to Achromatopsia 2, MIM# 216900",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:45:50.397011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNGA3 were set to ",
"entity_name": "CNGA3",
"entity_type": "gene"
}
]
}