HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220460,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1529",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1527",
"results": [
{
"created": "2020-10-23T17:25:18.332470+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA1 were set to ",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:25:00.288642+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151; Phenotypes: Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:19:00.871711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAT as ready",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:19:00.864083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chat has been classified as Green List (High Evidence).",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:18:54.094226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHAT were changed from to Congenital myasthenics syndrome associated with episodic apnea; Myasthenic syndrome, congenital, 6, presynaptic, 254210",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:16:37.507982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAT were set to ",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:16:24.568647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:16:07.274219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Congenital myasthenics syndrome associated with episodic apnea, Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:15:15.449834+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAT as ready",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:15:15.437020+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chat has been classified as Green List (High Evidence).",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:15:08.381387+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHAT were set to ",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:14:56.737105+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, MIM# 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:12:31.121374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ALG2.",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:12:11.237089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG2 as ready",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:12:11.225525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:12:00.468996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG2 were changed from to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:11:40.073131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG2 were set to ",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:11:22.738155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:11:06.182111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG2 as Amber List (moderate evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:11:06.170697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:10:49.697965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23404334, 24461433, 12684507; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:09:09.315550+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ALG2.",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:08:07.738842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGRN as ready",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:08:07.731179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrn has been classified as Green List (High Evidence).",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:07:43.444189+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG2 as ready",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:07:43.435654+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:07:40.770830+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG2 were changed from Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:07:32.977865+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG2 were set to ",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:07:24.769092+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG2 as Amber List (moderate evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:07:24.759906+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:07:15.347311+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23404334, 24461433; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:02:44.547185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGRN were changed from to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:02:28.520702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGRN were set to ",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:02:11.021614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:01:52.079697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631309, 22205389, 32221959; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:01:09.427630+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGRN as ready",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:01:09.418616+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrn has been classified as Green List (High Evidence).",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:01:06.504422+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGRN were set to ",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T17:00:54.237374+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631309, 22205389, 32221959; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:58:07.039565+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:58:07.029865+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Red List (Low Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:58:04.192945+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from to Dyschromatosis symmetrica hereditaria, MIM# 127400",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:57:33.119270+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:57:06.824612+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAR as Red List (low evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:57:06.813987+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Red List (Low Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:56:39.422237+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis symmetrica hereditaria, MIM# 127400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:48:59.548089+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA1 as ready",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:48:59.537006+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:48:55.627585+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:48:55.618737+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:26:50.895346+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF462 were changed from WEISS-KRUSZKA SYNDROME to Weiss-Kruszka syndrome, MIM#618619",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:24:37.482948+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZIC1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:23:49.966770+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from CRANIOECTODERMAL DYSPLASIA to Cranioectodermal dysplasia 2, MIM# 613610",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:23:17.068190+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 2, MIM# 613610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:16:44.482685+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMO were changed from Curry-Jones syndrome to Curry-Jones syndrome, somatic mosaic, MIM#\t601707",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:16:11.552374+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Curry-Jones syndrome, somatic mosaic, MIM# 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:15:03.982979+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD6 were changed from non-syndromic craniosynostosis to {Craniosynostosis 7, susceptibility to}, MIM# 617439",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:14:31.287464+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Craniosynostosis 7, susceptibility to}, MIM# 617439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:13:00.744670+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SKI were changed from SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Shprintzen-Goldberg syndrome, MIM# 182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:12:25.926973+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:10:31.943845+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEGF8 were changed from Carpenter syndrome to Carpenter syndrome, MIM#614976",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:10:00.552734+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:09:26.587888+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MASP1 were changed from 3MC syndrome to 3MC syndrome, MIM#257920",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:08:50.444387+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome, MIM#257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:06:35.208851+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6A were changed from Arboleda-Tham syndrome to Arboleda-Tham syndrome, MIM#616268",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:06:04.475551+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arboleda-Tham syndrome, MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:02:02.743065+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome to Au-Kline syndrome, MIM#616580",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-10-23T16:01:31.357620+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome, MIM#616580; Mode of inheritance: None",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:49:12.120936+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: Now included in all states for consistency. Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype.; to: Not included on NBS in Victoria, included in all three states for consistency. \r\n\r\nTreatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:48:31.105693+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosaemia, MIM #230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:39:06.078632+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17701904, 31752936, 28454995; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:38:26.763621+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:38:01.661092+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17701904, 31752936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:15:56.987367+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:15:25.813326+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:15:09.209391+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: TUBA8: Rating: ; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM #613180; Mode of inheritance: None",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:10:46.396938+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome, MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-10-23T15:05:59.703459+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.32",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:28:24.044348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPH1 were set to 25558065; 26220823",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:27:34.564739+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPH1: Added comment: Four unrelated families reported, 11 affected individuals. Common clinical features include abnormal skull shape (trigonocephaly, scaphocephaly, or prominent forehead accompanied with metopic ridge), distinctive face (downslanted palpebral fissures, low set ears, depressed nasal bridge, and sparse hair on the scalp, eyelashes, and/or eyebrows), short stature, developmental delay, and intellectual disability. Heart and brain malformations are also frequently observed.; Changed publications: 29362492, 29410513, 25558065, 26220823",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:27:06.475474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPH1 as ready",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:27:06.462235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph1 has been classified as Green List (High Evidence).",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:26:58.934654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPH1 were changed from to Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM# 616901",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:26:41.605930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPH1 were set to ",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:26:23.686820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:26:06.607477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPH1: Changed publications: 29362492, 29410513, 25558065, 26220823",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:25:57.581326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29362492, 29410513, 25558065, 26220823]; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM# 616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:10:36.122162+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF10 were changed from to Craniosynostosis",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-10-23T13:10:02.462431+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF10: Changed phenotypes: Craniosynostosis",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-10-23T08:31:58.294640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCD3 were changed from Intellectual disability; optic atrophy; Leigh-like syndrome to Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-10-23T08:31:35.385958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTCD3: Changed phenotypes: Combined oxidative phosphorylation deficiency-51, MIM#619057, Intellectual disability, optic atrophy, Leigh-like syndrome",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-10-23T08:31:14.721972+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCD3 were changed from Mental retardation; optic atrophy; Leigh-like syndrome to Combined oxidative phosphorylation deficiency-51, MIM#619057; Mental retardation; optic atrophy; Leigh-like syndrome",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-10-23T08:30:33.910903+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-51, MIM#619057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:54:10.453360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5068",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LRP8 as ready",
"entity_name": "LRP8",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:54:10.443120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5068",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lrp8 has been classified as Red List (Low Evidence).",
"entity_name": "LRP8",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:53:33.724863+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5068",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LRP8 as Red List (low evidence)",
"entity_name": "LRP8",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:53:33.714973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5068",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lrp8 has been classified as Red List (Low Evidence).",
"entity_name": "LRP8",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:53:13.488931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5067",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LRP8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myocardial infarction, susceptibility to MIM#608446; Mode of inheritance: Unknown",
"entity_name": "LRP8",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:37:51.638190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5067",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TCF21 as ready",
"entity_name": "TCF21",
"entity_type": "gene"
},
{
"created": "2020-10-22T16:37:51.630409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5067",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcf21 has been classified as Red List (Low Evidence).",
"entity_name": "TCF21",
"entity_type": "gene"
}
]
}