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{
"count": 220257,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=889",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=887",
"results": [
{
"created": "2022-04-07T18:13:18.166408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTPA as ready",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:13:18.154631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttpa has been classified as Green List (High Evidence).",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:13:07.547785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTPA were changed from to Ataxia with isolated vitamin E deficiency, MIM# 277460",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:12:43.103603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTPA were set to ",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:12:23.727574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:11:33.091616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC19 as ready",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:11:33.070951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc19 has been classified as Green List (High Evidence).",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:11:25.608038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:11:05.531115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC19 were set to ",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:10:42.088004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:10:18.850194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:10:12.830030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTC19: Added comment: Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances.\r\n\r\nAt least 4 unrelated families reported.; Changed publications: 21278747, 23532514, 24368687, 24397319",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:02:08.955761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSFM as ready",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:02:08.945439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Green List (High Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:01:25.554147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM# 610505",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:01:02.938835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSFM were set to ",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-04-07T17:19:27.368870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-04-07T15:26:26.949539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12756",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615120, 16479262; Phenotypes: Tooth agenesis, selective, 3 - MIM#604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX9",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:43:14.860242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is a reported feature of this mitochondrial disorder.; to: At least 5 families reported, however 3 had the same homozygous variant, ?founder.",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:42:19.400972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSFM: Changed publications: 25037205, 22499341",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:40:07.355689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPK1 as ready",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:40:07.343988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:39:51.937425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:39:30.962635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPK1 were set to ",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:36:55.158258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:36:35.464155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152682, 33626592, 33231275, 33086386; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:32:49.493626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP63 as ready",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:32:49.482836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp63 has been classified as Green List (High Evidence).",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:32:28.076914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP63 were changed from to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:32:04.076301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TP63 were set to ",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:31:43.248577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:31:21.781506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 20556892; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:27:00.389639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOR1A as ready",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:27:00.379355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1a has been classified as Green List (High Evidence).",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:25:40.873666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1A were changed from to Arthrogryposis multiplex congenita, MIM#618947; Dystonia-1, torsion, MIM#128100",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:23:54.658408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOR1A were set to ",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:23:30.398881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TOR1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:23:06.806599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244176, 9288096, 19955557, 18477710, 32243914, 31583275, 31347572; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947, Dystonia-1, torsion, MIM#128100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:20:14.034583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNXB as ready",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:20:14.020228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnxb has been classified as Green List (High Evidence).",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:20:04.682774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNXB were changed from to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:19:35.544669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNXB were set to ",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:19:14.092200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:18:53.063982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 28306225, 23620400; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:16:58.909035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNPO3 as ready",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:16:58.899074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnpo3 has been classified as Green List (High Evidence).",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:16:47.685956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNPO3 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:16:20.722988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNPO3 were set to ",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:15:52.161277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNPO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:15:22.034494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23667635, 23543484, 31071488, 31192305; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:00:11.317662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO2 as ready",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T14:00:11.305555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo2 has been classified as Green List (High Evidence).",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:55:47.808618+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO2 as ready",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:55:47.784319+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo2 has been classified as Green List (High Evidence).",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:55:41.939256+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPO2 as Green List (high evidence)",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:55:41.929000+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo2 has been classified as Green List (High Evidence).",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:55:29.227964+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPO2 was added\ngene: RSPO2 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPO2 were set to 29769720; 32457899\nPhenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, MIM# 618021\nReview for gene: RSPO2 was set to GREEN\nAdded comment: Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia. Four unrelated families and functional data including animal model. \nSources: Expert Review",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:55:09.025720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPO2 were changed from to Tetraamelia syndrome 2, MIM# 618021",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:54:48.626763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPO2 were set to ",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:54:00.719693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:52:52.674683+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:52:11.716575+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGA were set to 24706016; 24259184; 29159939",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:51:33.472401+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGA: Added comment: PMID 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; Changed publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:50:53.197635+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:50:14.916922+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGA were set to 24706016; 24259184; 29159939",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:49:16.199615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; to: PMID 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:49:04.638212+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:48:31.845462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:47:36.204426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGA: Added comment: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; Changed publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:46:00.217405+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:45:43.832472+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:44:50.458074+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC10 as ready",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:44:50.448867+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:44:45.589379+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC10 as Green List (high evidence)",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:44:45.579805+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc10 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC10",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:43:49.088284+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No specific link to proteinuria identified.; to: No specific link between nephronophthisis and proteinuria identified.",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:43:24.527169+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM#613820 to Glomerular disorder (MONDO:0019722), TTC21B-related",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:42:52.991342+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC21B were set to ",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:42:19.558664+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC21B as Green List (high evidence)",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:42:19.548945+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Green List (High Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:40:17.817293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:38:43.102796+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35B2 as ready",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:38:43.091589+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:38:39.315816+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC35B2 as Amber List (moderate evidence)",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:38:39.306398+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:31:29.695568+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35B2 was added\ngene: SLC35B2 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35B2 were set to 35325049\nPhenotypes for gene: SLC35B2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related\nReview for gene: SLC35B2 was set to AMBER\nAdded comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. \nSources: Literature",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:30:27.272709+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SLC35A2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-04-07T13:29:03.289514+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:29:03.279165+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:28:35.308694+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC35A2 as Amber List (moderate evidence)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:28:35.297874+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:28:19.440014+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A2 was added\ngene: SLC35A2 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: SLC35A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35A2 were set to 35325049\nPhenotypes for gene: SLC35A2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related\nReview for gene: SLC35A2 was set to AMBER\nAdded comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. \nSources: Literature",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:24:43.935392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35B2 were changed from chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability to Leukodystrophy, MONDO:0019046, SLC35B2-related",
"entity_name": "SLC35B2",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:19:30.958067+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B1 as ready",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:19:30.911162+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:19:22.733841+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B1 as Green List (high evidence)",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:19:22.723532+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:18:42.111140+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B1 as ready",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:18:42.095579+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:18:35.930643+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B1 as Green List (high evidence)",
"entity_name": "ATP2B1",
"entity_type": "gene"
}
]
}