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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1398",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1396",
"results": [
{
"created": "2021-03-03T13:07:12.891916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2021-03-03T13:06:42.060972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOO as ready",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2021-03-03T13:06:42.050844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoo has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2021-03-03T13:06:12.283457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOO as Amber List (moderate evidence)",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2021-03-03T13:06:12.272483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoo has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2021-03-03T02:32:47.783538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6526",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: APOO was added\ngene: APOO was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: APOO were set to 32439808\nPhenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour\nReview for gene: APOO was set to RED\nAdded comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture. \r\nPhenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors. \r\nFunctional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies. \nSources: Literature",
"entity_name": "APOO",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:10:42.921136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: AMH.",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:10:20.237422+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: AMH.",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:09:32.191603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECE1 as ready",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:09:32.181059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ece1 has been classified as Red List (Low Evidence).",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:09:24.539065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECE1 were changed from to Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:09:04.389411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ECE1 were set to ",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:08:36.217433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ECE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:08:18.527980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECE1 as Red List (low evidence)",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:08:18.515440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ece1 has been classified as Red List (Low Evidence).",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:07:58.996324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ECE1: Rating: RED; Mode of pathogenicity: None; Publications: 9915973, 9449665, 9449664; Phenotypes: Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:06:31.184865+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECE1 as ready",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:06:31.177281+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ece1 has been classified as Red List (Low Evidence).",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T22:06:28.772658+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECE1 were changed from ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 to Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T21:02:32.685988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6522",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: AMH as ready",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T21:02:32.675517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6522",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: amh has been classified as Green List (High Evidence).",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T21:01:16.629762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6522",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: AMH were changed from to Persistent Mullerian duct syndrome, type I (MIM#261550)",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T21:00:58.615979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6521",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: AMH were set to ",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T21:00:25.175077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6520",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T21:00:02.191294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32172781; Phenotypes: Persistent Mullerian duct syndrome, type I (MIM#261550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T20:58:20.337673+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.192",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: AMH as ready",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T20:58:20.333184+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.192",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: 64 different alleles have been discovered in 79 families. There is a common 27-bp deletion in the kinase domain in caucasians.",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T20:58:20.305749+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.192",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: amh has been classified as Green List (High Evidence).",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T20:57:23.368862+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.192",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: AMH were changed from to Persistent Mullerian duct syndrome, type I (MIM#261550)",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T20:56:55.949703+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.191",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: AMH were set to ",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T20:55:52.725461+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.190",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-02T15:20:19.590919+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ECE1 was added\ngene: ECE1 was added to Hirschsprung disease. Sources: Literature\nMode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ECE1 were set to PMID: 9915973; 9449665; 9449664\nPhenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870\nReview for gene: ECE1 was set to RED\nAdded comment: 1 patient reported in 1999: skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities, other dysmorphic/digit features, and autonomic dysfunction. A heterozygous variant (R742C) was identified, but parents were not available for testing. The activity of the mutant ECE-1 was 4.7% of that of wild-type ECE-1. The variant was thought to lead to the phenotype by resulting in reduced levels of EDN1 and EDN3. Ece1−/− mice exhibit neonatal lethality due to craniofacial and cardiac defects identical to those seen in Edn1−/− mice. In addition, Ece1−/− newborns lack enteric ganglia in the terminal colons, so Ece1 knockout mice seem to present a combination of features characteristic for the Edn1 and Edn3 knockout mice. \nSources: Literature",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2021-03-02T12:46:45.814806+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.189",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32172781; Phenotypes: Persistent Mullerian duct syndrome, type I (MIM#261550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMH",
"entity_type": "gene"
},
{
"created": "2021-03-01T21:03:11.209374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX4 as ready",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T21:03:11.201875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax4 has been classified as Green List (High Evidence).",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T21:02:59.198344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX4 were changed from to Maturity-onset diabetes of the young, type IX MIM#612225; Diabetes mellitus, type 2, MIM# 125853",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T21:02:38.278072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX4 were set to ",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T21:02:19.716083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T21:02:01.553876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17426099, 14561778, 25951767, 21263211; Phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225, Diabetes mellitus, type 2, MIM# 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:59:10.889783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCBD1 as ready",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:59:10.877795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbd1 has been classified as Green List (High Evidence).",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:59:02.624002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:58:39.607435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCBD1 were set to ",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:58:16.671256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:57:37.818961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204001; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:55:46.435600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 4 unrelated families reported.; to: At least 4 unrelated families reported with DEE phenotype.",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:55:22.737337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:55:22.726891+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:55:19.403642+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:54:44.101971+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to ",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:54:16.075730+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:53:45.314110+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:52:43.745324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:52:43.734853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:52:35.293583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477; hereditary motor neuropathy",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:52:17.393871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to ",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:52:00.378110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:51:26.632210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:48:39.058344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Phenotype expansion with early-onset PD reported.; to: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:47:55.406673+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSAP were set to ",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:47:39.287887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from Parkinson disease, AD to Parkinson disease, AD; Combined SAP deficiency 611721; Gaucher disease, atypical, MIM# 610539; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:46:51.021574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Phenotype expansion reported with early-onset PD reported.; to: Well established gene-disease association. Phenotype expansion with early-onset PD reported.",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:46:40.220384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32201884; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical, MIM# 610539, Krabbe disease, atypical, MIM# 611722, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:43:06.845127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTL9 as ready",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:43:06.833660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actl9 has been classified as Green List (High Evidence).",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:42:33.982859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPEN were changed from Developmental disorders to Intellectual disability; autism; congenital anomalies",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:41:39.675138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPEN were changed from Developmental disorders to Intellectual disability; autism; congenital anomalies",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:36:50.268623+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANGPTL6 as ready",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:36:50.261347+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angptl6 has been classified as Green List (High Evidence).",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:36:45.879366+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANGPTL6 as Green List (high evidence)",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:36:45.869433+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angptl6 has been classified as Green List (High Evidence).",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:36:36.293183+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANGPTL6 was added\ngene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANGPTL6 were set to 29304371; 33106390\nPhenotypes for gene: ANGPTL6 were set to Cerebral aneurysm\nReview for gene: ANGPTL6 was set to GREEN\nAdded comment: Six unrelated families reported. \nSources: Literature",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:32:41.048784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP3 were changed from to Familial cold inflammatory syndrome 1, MIM#120100; Muckle-Wells syndrome, MIM#191900; CINCA syndrome, MIM#607115; Deafness, autosomal dominant 34, with or without inflammation, MIM#617772; Keratoendothelitis fugax hereditaria, MIM#148200",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T20:32:15.311037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NLRP3 was changed from to Other",
"entity_name": "NLRP3",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:35:32.778146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6505",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IRF4 as ready",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:35:32.766477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6505",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:34:32.522087+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IRF4 as ready",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:34:32.511840+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:34:16.777530+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IRF4 as Amber List (moderate evidence)",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:34:16.767473+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:33:46.108754+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IRF4 was added\ngene: IRF4 was added to Combined Immunodeficiency. Sources: Other\nMode of inheritance for gene: IRF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IRF4 were set to 29408330\nPhenotypes for gene: IRF4 were set to Combined immunodeficiency\nReview for gene: IRF4 was set to AMBER\nAdded comment: A single case with a homozygous splice variant inherited by uniparental isodisomy, and previously reported supporting null animal models. \nSources: Other",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:32:25.312865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6505",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: IRF4 were changed from Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724 to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724; Combined immunodeficiency",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:32:04.567771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6504",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: IRF4 were set to 29537367",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:31:51.954436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6503",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:31:30.326353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6502",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IRF4 as Amber List (moderate evidence)",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:31:30.321570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6502",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Single case and mouse model for recessive combined immunodeficiency",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:31:30.295008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6502",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T17:30:30.951374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6501",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: IRF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29408330; Phenotypes: Combined immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:23:23.893182+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.2",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:23:23.883827+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.2",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:22:37.476821+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.1",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia\nReview for gene: MED27 was set to GREEN\ngene: MED27 was marked as current diagnostic\nAdded comment: 16 patients from 11 families reported \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:20:46.043693+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.170",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:20:46.036191+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.170",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:20:29.983385+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.169",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia\nReview for gene: MED27 was set to GREEN\ngene: MED27 was marked as current diagnostic\nAdded comment: 16 patients from 11 families reported \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:16:13.092052+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.9",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: PCBD1 as ready",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:16:13.081228+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.9",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: pcbd1 has been classified as Green List (High Evidence).",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:14:36.825712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6501",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "edited their review of gene: PCBD1: Added comment: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.\r\n\r\nPMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY; Changed phenotypes: MODY, Hyperphenylalaninemia, BH4-deficient, D 264070",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:14:27.873200+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.9",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PAX4 as ready",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:14:27.862289+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.9",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pax4 has been classified as Green List (High Evidence).",
"entity_name": "PAX4",
"entity_type": "gene"
},
{
"created": "2021-03-01T16:14:25.447347+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.9",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: PAX4 were changed from Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young, type IX MIM#612225",
"entity_name": "PAX4",
"entity_type": "gene"
}
]
}