HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=326",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=324",
"results": [
{
"created": "2024-12-12T12:57:57.201664+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCFC1 were set to ",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:57:30.424009+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.669",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "changed review comment from: Well established gene disease association.; to: Well established gene- condition association. ",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:57:01.198209+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.669",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: LINS1: Rating: ; Mode of pathogenicity: None; Publications: 34450347, 21937992, 32802957, 32499722; Phenotypes: Intellectual developmental disorder, autosomal recessive 2, 614340 (3); Mode of inheritance: None",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:56:53.540009+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.669",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: ClinGen has split this gene for 4 disease entities as per the Mondo terms. Curation of variants will need to consider the spectrum.",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:56:53.487110+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.669",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A2 were changed from Achondrogenesis Ib, 600972 (3) to diastrophic dysplasia MONDO:0009107; multiple epiphyseal dysplasia MONDO:0016648; atelosteogenesis type II MONDO:0009727; achondrogenesis type IB MONDO:0010966",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:56:53.263909+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1C as ready",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:56:53.236713+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Green List (High Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:56:47.808954+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1C were changed from Treacher Collins syndrome 3, 248390 (3) to Leukodystrophy, hypomyelinating, 11 MIM#616494; Treacher Collins syndrome 3 MIM#248390",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:56:24.577472+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1C were set to ",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:55:55.946975+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX11B as ready",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:55:55.928259+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex11b has been classified as Green List (High Evidence).",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:55:43.760904+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX11B were changed from Peroxisome biogenesis disorder 14B, 614920 (3) to Peroxisome biogenesis disorder 14B MIM#614920",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:55:34.316409+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.665",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC26A2 were set to ",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:55:30.898993+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to ",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:54:56.485553+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX10 as ready",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:54:56.460718+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Green List (High Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:53:46.129955+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX10 were changed from Peroxisome biogenesis disorder 6A (Zellweger), 614870 to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Peroxisome biogenesis disorder 6B MIM#614871",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:53:31.466283+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX10 were set to ",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:53:01.953228+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAGN1 as ready",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:53:01.926489+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jagn1 has been classified as Green List (High Evidence).",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:52:58.598395+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAGN1 were changed from Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3) to Severe congenital neutropenia 6, MIM# 616022",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:52:47.258983+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JAGN1 were set to ",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:52:19.016621+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP93 as ready",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:52:18.998936+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup93 has been classified as Green List (High Evidence).",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:52:15.448745+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP93 were changed from Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive to Nephrotic syndrome, type 12 MIM#616892",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:52:03.484305+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP93 were set to ",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:59.896708+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.657",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PDE6C as ready",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:59.891082+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.657",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Downgrade to red for severity",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:59.847685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.657",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pde6c has been classified as Green List (High Evidence).",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:43.518994+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.657",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PDE6C were set to ",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:30.102921+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RA as ready",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:30.081758+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10ra has been classified as Green List (High Evidence).",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:26.020053+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL10RA were changed from Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3) to Early onset inflammatory bowel disease 28 (MIM# 613148)",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:51:10.377076+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL10RA were set to ",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:50:20.330585+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:50:20.313841+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Green List (High Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:50:10.682268+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) to Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920)",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:49:41.130513+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:49:16.728295+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP4 as ready",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:49:16.702659+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Green List (High Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:49:11.565355+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP4 were changed from Senior-Loken syndrome 4, 606996 (3) to Nephronophthisis 4 MONDO:0011752; Nephronophthisis 4 MIM#606966; Senior-Loken syndrome 4 MIM#606996",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:48:59.123593+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP4 were set to ",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:48:30.420499+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF6 as ready",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:48:30.390830+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf6 has been classified as Green List (High Evidence).",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:48:26.444576+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF6 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Leigh syndrome MONDO:0009723; Mitochondrial complex I deficiency, nuclear type 17 MIM#618239",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:48:14.451784+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFAF6 were set to ",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:47:49.325618+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDS as ready",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:47:49.313770+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ids has been classified as Green List (High Evidence).",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:47:44.101590+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II, 309900 (3) to Mucopolysaccharidosis II, MIM# 309900; Hunter syndrome, MONDO:0010674",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:47:31.217438+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IDS were set to ",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:47:08.891502+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGLU as ready",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:47:08.875778+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naglu has been classified as Green List (High Evidence).",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:47:05.441173+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) to Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:46:52.839229+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAGLU were set to ",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:46:35.016237+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.644",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22258533, 21487076; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:46:06.373839+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTM1 as ready",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:46:06.358284+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtm1 has been classified as Green List (High Evidence).",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:46:02.709033+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 (3) to Myopathy, centronuclear, X-linked MIM#310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:45:59.553089+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.643",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CABP4 as ready",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:45:59.547341+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.643",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Downgrade to red for severity",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:45:59.486950+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.643",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cabp4 has been classified as Green List (High Evidence).",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:45:51.158266+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTM1 were set to ",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:45:07.801512+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.116",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 16570191, 15024724; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:44:27.962607+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPRT1 as ready",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:44:27.946983+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Green List (High Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:44:24.365468+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, 300322 (3) to Lesch-Nyhan syndrome, MIM#300322",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:44:09.474965+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPRT1 were set to ",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:43:48.012875+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG6 as ready",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:43:47.998807+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Green List (High Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:43:44.496334+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG6 were set to ",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:43:21.303836+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPT2 as ready",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:43:21.280616+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:43:15.126457+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPT2 were set to ",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:42:43.451556+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTFMT as ready",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:42:43.436778+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtfmt has been classified as Green List (High Evidence).",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:42:39.468156+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947 (3) to Leigh Syndrome MONDO:0009723",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:42:23.607836+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTFMT were set to ",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:41:54.591477+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:41:54.578996+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Green List (High Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:41:51.385313+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPC3 were set to ",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:38:29.814588+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.635",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GPR143 as ready",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:38:29.809677+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.635",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: DOWNGRADE TO RED NOT SEVERE ENOUGH",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:38:29.757866+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.635",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gpr143 has been classified as Green List (High Evidence).",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:38:15.988801+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.635",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GPR143 were changed from Ocular albinism, type I, Nettleship-Falls type, 300500 (3) to Nystagmus 6, congenital, X-linked, MIM#300814; Ocular albinism, type I, Nettleship-Falls type, MIM#300500",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:37:59.629046+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.634",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GPR143 were set to ",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:15:15.151362+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816, 7643352; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:08:48.175794+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848, 22451424, 20558610; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:07:13.327406+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986, 38801250, 32686083, 37239474; Phenotypes: Bardet-Biedl syndrome 17 MIM#615994, MONDO:0014445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2024-12-12T12:02:39.066978+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2024-12-12T11:58:04.138324+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association. Childhood onset, multi-system, Angelman-like disorder. \r\nCharacterised by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. \r\n\r\nFemale carriers may be either asymptomatic, or more mildly affected than males.\r\nPMID 31192222: describes 20 female carriers from 9 families. Presentations included impairments in visuospatial function, attention, and executive function. Cohort features: Intellectual disability/developmental delay (20%), learning difficulties (31%), speech/language delays (30%), and attention-deficit/hyperactivity disorder (20%). \r\nPMID 35198730: Japanese family where SLC9A6 variant in female carriers segregated with atypical parkinsonism and intellectual disability.\r\n\r\nMore than 20 unrelated families reported. Functional data including mouse model.; to: Established gene-disease association. Childhood onset, multi-system, Angelman-like disorder in affected males - \r\ncharacterised by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. \r\n\r\nFemale carriers may be either asymptomatic, or more mildly affected than males.\r\nPMID 31192222: describes 20 female carriers from 9 families. Presentations included impairments in visuospatial function, attention, and executive function. Cohort features: Intellectual disability/developmental delay (20%), learning difficulties (31%), speech/language delays (30%), and attention-deficit/hyperactivity disorder (20%). \r\nPMID 35198730: Japanese family where SLC9A6 variant in female carriers segregated with atypical parkinsonism and intellectual disability.\r\n\r\nMore than 20 unrelated families reported. Functional data including mouse model.",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2024-12-12T11:57:31.685824+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735, 31192222, 35198730; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2024-12-12T11:43:59.167264+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773, 32227118, 35775128; Phenotypes: Diarrhea 8, secretory sodium, congenital MIM#616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2024-12-12T11:41:50.418991+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122589, 23891469, 32622824, 29511670, 38934611, 33577779, 39004944, 31624012; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935, MONDO:0013979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2024-12-12T11:19:43.041567+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2024-12-12T08:27:55.342092+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-12-12T08:27:10.002075+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTULIN: Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030, Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-12-12T08:26:18.478309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTULIN were changed from Services; Australian Genomics)\tAutoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 to Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-12-12T08:25:36.991313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 to Services; Australian Genomics)\tAutoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-12-12T08:24:37.273307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTULIN: Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030, Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099, Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-12-11T16:44:54.460353+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity.\r\nVariants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.\r\nMouse models present for some phenotypes, and functional studies are present.\r\n\r\nHomozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)\r\n\r\nUnsure of phenotypes to list under condition. Clingen includes curations for:\r\ndiastrophic dysplasia MONDO:0009107\r\nmultiple epiphyseal dysplasia MONDO:0016648\r\natelosteogenesis type II MONDO:0009727\r\nachondrogenesis type IB MONDO:0010966\r\nOMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity.\r\nVariants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.\r\nMouse models present for some phenotypes, and functional studies are present.\r\n\r\nHomozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory variants usually result in one of the less severe phenotypes (PMID: 8723100)\r\n\r\nUnsure of phenotypes to list under condition. Clingen includes curations for:\r\ndiastrophic dysplasia MONDO:0009107\r\nmultiple epiphyseal dysplasia MONDO:0016648\r\natelosteogenesis type II MONDO:0009727\r\nachondrogenesis type IB MONDO:0010966\r\nOMIM phenotypes (6) listed above.",
"entity_name": "SLC26A2",
"entity_type": "gene"
}
]
}