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{
"count": 221277,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=685",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=683",
"results": [
{
"created": "2022-11-28T20:34:08.633288+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Red List (Low Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:33:56.340439+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome to Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:33:40.482597+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI3 as Red List (low evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:33:40.462492+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Red List (Low Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:33:28.764599+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly, postaxial, types A1 and B, MIM#174200, Greig cephalopolysyndactyly syndrome MIM#175700, Polydactyly, preaxial, type IV MIM#174700, Pallister-Hall syndrome MIM#146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:31:36.269761+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLF1 as ready",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:31:36.257986+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crlf1 has been classified as Red List (Low Evidence).",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:31:32.366793+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRLF1 were changed from Crisponi syndrome to Cold-induced sweating syndrome 1, MIM# 272430",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:31:20.037842+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRLF1 as Red List (low evidence)",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:31:20.024776+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crlf1 has been classified as Red List (Low Evidence).",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2022-11-28T20:31:07.617196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM# 272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2022-11-28T12:20:33.538026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGN: Added comment: Large cohort study of 21 new and review of 40 previously published cases in PMID 36322149\r\n\r\nBiallelic-truncating variants were detected in 16 patients-10 with Fryns syndrome, 1 with MCAHS1, 2 with Fryns syndrome/MCAHS1, and 3 with neurologic phenotype. There was an increased risk of prenatal or neonatal death within this group (6 deaths were in utero or within 2 months of life; 6 pregnancies were terminated). Incidence of polyhydramnios, congenital anomalies (eg, diaphragmatic hernia), and dysmorphism was significantly increased. Biallelic missense or mixed genotype were reported in the remaining 45 cases-32 showed a neurologic phenotype and 12 had MCAHS1. No cases of diaphragmatic hernia or abdominal wall defects were seen in this group except patient 1 in which we found the missense variant p.Ser893Arg to result in functionally null alleles, suggesting the possibility of an undescribed functionally important region in the final exon.; Changed publications: 36322149; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563, Fryns syndrome",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2022-11-28T12:18:15.154891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Fryns syndrome",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2022-11-28T12:14:51.020203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770; 33578420; 31332438",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-11-28T12:14:29.117962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-11-28T12:14:05.905625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTAN1: Added comment: PMID 36331550: further 31 individuals reported with mono-allelic variants. Three phenotypes observed:\r\n1. DEE\r\n2. Isolated DD/ID\r\n3. HSP or ataxia; Changed publications: 20493457, 22258530, 32811770, 35150594, 34526651, 31515523, 36331550",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-11-28T12:12:28.900865+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-11-28T12:11:48.047557+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTAN1: Added comment: Another 21 individuals reported in PMID 36331550; some had DEE and others had isolated ID.; Changed publications: 20493457, 22258530, 32811770, 36331550",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:17:32.049792+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: SLC25A1.",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:16:00.811101+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC19A3.",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:15:34.602712+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A2 as ready",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:15:34.590403+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:15:26.955832+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SLC19A2.",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:14:42.853376+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LRP5: Added comment: ClinGen assessment is LIMITED (2020).; Changed phenotypes: Polycystic liver disease 4 with or without kidney cysts, MIM# 617875",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:11:33.313875+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW7 were changed from Predisposition to cancer to Wilms tumour, hereditary, MONDO:0003321, FBXW7-related",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:11:01.656345+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXW7 as Amber List (moderate evidence)",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:11:01.643998+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:10:30.278001+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXW7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumour, hereditary, MONDO:0003321, FBXW7-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:01:27.669167+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC16B as ready",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:01:27.656315+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec16b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:01:18.541044+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC16B as Amber List (moderate evidence)",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:01:18.527733+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec16b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:01:04.053267+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC16B was added\ngene: SEC16B was added to Polycystic liver disease. Sources: Expert Review\nMode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC16B were set to 28375157; 28862642; 30652979\nPhenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related\nReview for gene: SEC16B was set to AMBER\nAdded comment: Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen. \nSources: Expert Review",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:00:03.834669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC16B as ready",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T11:00:03.819332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec16b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:59:51.091752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC16B as Amber List (moderate evidence)",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:59:51.079514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec16b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:59:31.949594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC16B was added\ngene: SEC16B was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC16B were set to 28375157; 28862642; 30652979\nPhenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related\nReview for gene: SEC16B was set to AMBER\nAdded comment: Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen. \nSources: Expert Review",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:59:22.722800+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC16B as ready",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:59:22.703157+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec16b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:57:40.882881+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC16B were changed from Polycystic liver disease with or without renal cysts, no OMIM # to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:51:14.611079+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC16B as Amber List (moderate evidence)",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:51:14.599746+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec16b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:50:41.580845+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC16B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEC16B",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:43:53.562951+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:43:53.549166+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:41:55.593132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:41:27.242515+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2022-11-28T10:40:29.651179+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2022-11-28T08:08:11.401765+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to 25557784; 31821705; 27469900",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2022-11-28T08:07:48.490034+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to 25557784; 31821705",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2022-11-28T07:56:15.172002+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD3B2 as ready",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-11-28T07:56:15.140457+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b2 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-11-28T07:55:54.020438+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP21A2 as ready",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2022-11-28T07:55:54.004776+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp21a2 has been classified as Green List (High Evidence).",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2022-11-28T07:55:33.195465+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP17A1 as ready",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2022-11-28T07:55:33.169661+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp17a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:20:42.056381+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB7 as ready",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:20:42.044781+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:20:02.779878+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB7 as Amber List (moderate evidence)",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:20:02.765474+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:19:52.982076+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFB7 was added\ngene: NDUFB7 was added to Cardiomyopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFB7 were set to 33502047; 27626371\nPhenotypes for gene: NDUFB7 were set to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135\nReview for gene: NDUFB7 was set to AMBER\nAdded comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly. \nSources: Expert Review",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:18:44.962867+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:18:17.026465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Congenital lactic acidosis; hypertrophic cardiomyopathy",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-27T21:17:39.223628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:58:32.610664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC25A1 as ready",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:58:32.599468+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:58:11.783490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1103",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC25A1 were set to ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:57:59.374757+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1102",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC25A1 as Amber List (moderate evidence)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:57:59.362389+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1102",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:57:46.510477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC25A1.",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:57:28.539288+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:28:23.649651+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1101",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, MIM#212140 to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:28:04.465131+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1100",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC22A5 were set to ",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:27:43.593702+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1099",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:23:28.699870+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1099",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:23:28.684709+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1099",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:23:17.888657+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1099",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from Basal ganglia disease, biotin-responsive, MIM#607483 to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:22:34.077401+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1098",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC19A3 were set to ",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:22:08.097388+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1097",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24260777; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:11:34.259249+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1097",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC19A2 as ready",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:11:34.243908+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1097",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc19a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:11:16.838151+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1097",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:10:50.947389+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1096",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC19A2 were set to ",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-26T17:08:56.183955+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1095",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301459; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-11-25T20:27:53.738334+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PHOX2B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-25T20:27:33.008107+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPR161 as Green List (high evidence)",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2022-11-25T20:27:32.982988+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr161 has been classified as Green List (High Evidence).",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2022-11-25T20:27:22.924940+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR161 was added\ngene: GPR161 was added to Medulloblastoma. Sources: Expert Review\nMode of inheritance for gene: GPR161 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GPR161 were set to {Medulloblastoma predisposition syndrome}\t155255\nReview for gene: GPR161 was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2022-11-25T20:26:22.698450+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELP1 as Green List (high evidence)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-25T20:26:22.684616+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Green List (High Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-25T20:26:09.999022+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELP1 was added\ngene: ELP1 was added to Medulloblastoma. Sources: Expert Review\nMode of inheritance for gene: ELP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ELP1 were set to {Medulloblastoma}\t155255\nReview for gene: ELP1 was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-25T20:24:49.827855+11:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ALK from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-25T15:47:53.878678+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-11-25T15:45:48.952462+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SEC63 as Green List (high evidence)",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2022-11-25T15:45:48.940809+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sec63 has been classified as Green List (High Evidence).",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2022-11-25T15:45:13.893624+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.59",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: SEC63: Added comment: CLINGEN assessed as DEFINITIVE (2020) \r\n\r\nSEC63 was FIRST reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2004 (Davila et al., PMID 15133510). ADPLD due to SEC63 mutations (ADPLD-SEC63) is diagnosed in adults with a family history of liver cysts, under age 40 with any number of liver cysts and individuals over the age of 40 with four or more liver cysts. Women are associated with more severe course of disease, and kidney cysts are present in approximately 28-35% of cases, but in these cases the kidney disease is mild with no association with progression to end stage renal disease (PMID 20408995). At least twenty unique variants (e.g. nonsense, frameshift, splice site, missense) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, population data and experimental data. Summary of Case Level Data: 12 POINTS. Variants in this gene have been reported in at least 19 probands and in at least four publications (PMID 15133510, PMID 16835903, PMID 20095989, PMID 28375157). Variants in this gene segregated with disease in at least 24 additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is heterozygous loss of function (PMID 15133510, PMID 20095989), with experimental evidence suggesting endoplasmic reticulum stress with induction of the unfolded protein response (UPR) and association with aberrant polycystin 1 (PC1) post-translational modifications leading to cystogenesis (PMID 22864019, PMID 25844898). This gene-disease association is supported by expression studies in cell models, zebrafish models, and mouse models (PMID 21685914, PMID 22864019, PMID 25844898). In summary, SEC63 is definitively associated with AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.; Changed rating: GREEN",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2022-11-25T15:38:52.726682+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.59",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PRKCSH as Green List (high evidence)",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2022-11-25T15:38:52.714626+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.59",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: prkcsh has been classified as Green List (High Evidence).",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2022-11-25T15:38:23.398635+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.58",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PRKCSH",
"entity_type": "gene"
}
]
}