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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=234",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=232",
"results": [
{
"created": "2025-05-08T15:59:49.042583+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem230 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM230",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:59:44.709731+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM230 as Red List (low evidence)",
"entity_name": "TMEM230",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:59:44.700088+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem230 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM230",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:58:57.411396+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LGALSL as ready",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:58:57.404834+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgalsl has been classified as Amber List (Moderate Evidence).",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:58:52.064661+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LGALSL as Amber List (moderate evidence)",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:58:52.057690+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgalsl has been classified as Amber List (Moderate Evidence).",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:58:03.317428+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGXT2 as ready",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:58:03.311206+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt2 has been classified as Red List (Low Evidence).",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:57:51.235503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGXT2 as ready",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:57:51.228796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt2 has been classified as Red List (Low Evidence).",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:57:44.264633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGXT2 as Red List (low evidence)",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:57:44.258554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt2 has been classified as Red List (Low Evidence).",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:56:47.760006+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC29A1 as ready",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:56:47.747176+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:56:44.952014+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC29A1 were changed from to Disorders of ectonucleotide and nucleic acid metabolism; Equilibrative nucleoside transporter 1 deficiency MONDO:0019052",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:56:34.937164+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC29A1 were set to ",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:56:23.538193+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC29A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:55:57.636804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC29A1 as ready",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:55:57.630371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:55:41.324085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC29A1 as Red List (low evidence)",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:55:41.314159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:54:59.987933+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to Neurodevelopmental disorder, PLK1-related, MONDO:0700092",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:54:28.155064+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to Neurodevelopmental disorder, PLK1-related, MONDO:0700092",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:54:04.180271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLK1: Changed phenotypes: Neurodevelopmental disorder, PLK1-related, MONDO:0700092",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:52:25.427937+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to Neurodevelopmental disorder, PLK1-related, MONDO:0700092",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:51:57.751638+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLK1: Changed phenotypes: Neurodevelopmental disorder, PLK1-related, MONDO:0700092",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:51:44.633857+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to Neurodevelopmental disorder, PLK1-related, MONDO:0700092",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:51:14.652821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to Neurodevelopmental disorder, PLK1-related, MONDO:0700092",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:50:36.915930+10:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD3 were changed from Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia to Lysyl hydroxylase 3 deficiency, MIM#612394; Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:49:55.431643+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD3 were changed from cataract to Lysyl hydroxylase 3 deficiency, MIM#612394",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:49:07.876890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD3 were changed from to Lysyl hydroxylase 3 deficiency, MIM#612394; Bone fragility with contractures, arterial rupture, and deafness (BCARD syndrome) MONDO:0012892",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:48:43.283307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD3 were set to ",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:47:45.051433+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNA2 were changed from Intellectual disability; Abnormality of the face; Failure to thrive; Abnormal heart morphology to Complex neurodevelopmental disorder, PLXNA2-related, MONDO:0100038",
"entity_name": "PLXNA2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:47:08.312958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNA2 were changed from Intellectual disability; Abnormality of the face; Failure to thrive; Abnormal heart morphology to Complex neurodevelopmental disorder, PLXNA2-related, MONDO:0100038",
"entity_name": "PLXNA2",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:46:23.797709+10:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL were changed from Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities to RECON progeroid syndrome MONDO:0957266",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:45:52.533566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL were changed from Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities to RECON progeroid syndrome MONDO:0957266",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:45:08.959816+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX3 were changed from ID, ASD, ADHD to RFX3-related neurodevelopmental disorder MONDO:0700092",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:44:34.221737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX3 were changed from ID, ASD, ADHD to RFX3-related neurodevelopmental disorder MONDO:0700092",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:43:52.306757+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX4 were changed from ID, ASD, ADHD to RFX4-related neurodevelopmental disorder, MONDO:0700092",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:43:20.842947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX4 were changed from ID, ASD, ADHD to RFX4-related neurodevelopmental disorder, MONDO:0700092",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2025-05-08T15:42:42.095821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROBO4 were set to 30455415; 32748548",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2025-05-08T13:32:41.226322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2564",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36855159; Phenotypes: Aortic valve disease 8 MIM#618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ROBO4",
"entity_type": "gene"
},
{
"created": "2025-05-08T10:22:20.033409+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.569",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: GPR143 as Red List (low evidence)",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2025-05-08T10:22:20.029285+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.569",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Marked red in line with LD comment",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2025-05-08T10:22:19.991340+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.569",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: gpr143 has been classified as Red List (Low Evidence).",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2025-05-08T10:21:46.846607+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: GPR143 as Red List (low evidence)",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2025-05-08T10:21:46.843477+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Marked red in line with LD comment",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2025-05-08T10:21:46.822086+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.8",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: gpr143 has been classified as Red List (Low Evidence).",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:51:19.805566+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, MIM# 621192",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:51:03.671732+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofaciocardiohepatic syndrome, MIM# 621192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:50:47.069474+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related to Craniofaciocardiohepatic syndrome, MIM# 621192",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:50:33.721237+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AMOTL1: Changed rating: GREEN; Changed phenotypes: Craniofaciocardiohepatic syndrome, MIM# 621192",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:49:57.548830+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, MIM# 621192",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:49:32.988126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofaciocardiohepatic syndrome, MIM# 621192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:47:56.019569+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related to Craniofaciocardiohepatic syndrome, MIM# 621192",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:47:34.629202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AMOTL1: Changed phenotypes: Craniofaciocardiohepatic syndrome, MIM# 621192",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:47:20.079667+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, MIM# 621192",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:46:53.818316+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofaciocardiohepatic syndrome, MIM# 621192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:45:59.768478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSM7 were changed from leukodystrophy MONDO:0019046, LRM7-related to Leukodystrophy and cerebellar atrophy, MIM# 621191",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:45:39.780514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LSM7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy and cerebellar atrophy, MIM# 621191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:44:58.441747+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSM7 were changed from leukodystrophy MONDO:0019046, LRM7-related to Leukodystrophy and cerebellar atrophy, MIM# 621191",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2025-05-07T14:44:39.870632+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LSM7: Changed phenotypes: Leukodystrophy and cerebellar atrophy, MIM# 621191",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2025-05-07T12:29:16.530189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RFX4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: RFX4-related neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: None",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2025-05-07T12:28:10.213410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RFX3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: RFX3-related neurodevelopmental disorder MONDO:0700092; Mode of inheritance: None",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2025-05-07T12:25:02.905911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RECQL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: RECON progeroid syndrome MONDO:0957266; Mode of inheritance: None",
"entity_name": "RECQL",
"entity_type": "gene"
},
{
"created": "2025-05-07T11:39:07.387520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive cutis laxa type 2B MONDO:0013051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2025-05-07T09:27:22.022273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLXNA2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder, PLXNA2-related, MONDO:0100038; Mode of inheritance: None",
"entity_name": "PLXNA2",
"entity_type": "gene"
},
{
"created": "2025-05-07T09:04:03.024107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLOD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone fragility with contractures, arterial rupture, and deafness (BCARD syndrome) MONDO:0012892; Mode of inheritance: None",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2025-05-07T08:57:56.976777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLK1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, PLK1-related, MONDO:0700092; Mode of inheritance: None",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2025-05-06T11:03:27.055394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: SLC29A1: Changed rating: RED",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-06T11:03:22.838683+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: This gene-disease association is an inborn error of metabolism known as disorders of ectonucleotide and nucleic acid metabolism. Not enough evidence to support the gene-disease association. - https://iembase.com/disorder/783\r\n\r\nPMID: 35955904\r\nHomozygous Glu391Lys responsible for the A-negative blood time in people of African ancestry however is not shown to alter the protein function. Affected individuals will likely not have any phenotypes except the A- blood type. Missense variant is present in gnomAD v4.1 (GrpMax FAF - 1.159% in African/African American Population)\r\n\r\nPMID: 25896650 \r\n3 sibs of European ancestry identified with homozygous c.589+1G>C (rare on gnomAD v4.1 for AR gene)\r\nNo severe phenotype was observed however periarticular and ectopic mineralization was observed which important regarding bone homeostasis.; to: This gene-disease association is an inborn error of metabolism known as disorders of ectonucleotide and nucleic acid metabolism. More evidence is required to support the gene-disease association. - https://iembase.com/disorder/783\r\n\r\nPMID: 35955904\r\nHomozygous Glu391Lys responsible for the A-negative blood time in people of African ancestry however is not shown to alter the protein function. Affected individuals will likely not have any phenotypes except the A- blood type. Missense variant is present in gnomAD v4.1 (GrpMax FAF - 1.159% in African/African American Population)\r\n\r\nPMID: 25896650 \r\n3 sibs of European ancestry identified with homozygous c.589+1G>C (rare on gnomAD v4.1 for AR gene)\r\nNo severe phenotype was observed however periarticular and ectopic mineralization was observed which important regarding bone homeostasis.",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-06T11:03:04.548915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC29A1 was added\ngene: SLC29A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC29A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC29A1 were set to 35955904; 25896650\nPhenotypes for gene: SLC29A1 were set to Disorders of ectonucleotide and nucleic acid metabolism; Equilibrative nucleoside transporter 1 deficiency MONDO:0019052\nReview for gene: SLC29A1 was set to AMBER\nAdded comment: This gene-disease association is an inborn error of metabolism known as disorders of ectonucleotide and nucleic acid metabolism. More evidence is required to support the gene-disease association. - https://iembase.com/disorder/783\r\n\r\nPMID: 35955904\r\nHomozygous Glu391Lys responsible for the A-negative blood time in people of African ancestry however is not shown to alter the protein function. Affected individuals will likely not have any phenotypes except the A- blood type. Missense variant is present in gnomAD v4.1 (GrpMax FAF - 1.159% in African/African American Population)\r\n\r\nPMID: 25896650\r\n3 sibs of European ancestry identified with homozygous c.589+1G>C (rare on gnomAD v4.1 for AR gene)\r\nNo severe phenotype was observed however periarticular and ectopic mineralization was observed which important regarding bone homeostasis. \nSources: Literature",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-06T11:01:58.771550+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC29A1: Rating: RED; Mode of pathogenicity: None; Publications: 35955904, 25896650; Phenotypes: Disorders of ectonucleotide and nucleic acid metabolism, Equilibrative nucleoside transporter 1 deficiency MONDO:0019052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2025-05-06T10:08:44.747745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: AGXT2 was added\ngene: AGXT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AGXT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGXT2 were set to 21572414\nPhenotypes for gene: AGXT2 were set to beta-aminoisobutyric acid, urinary excretion of MONDO:0008860\nReview for gene: AGXT2 was set to RED\nAdded comment: This gene-disease association needs further evidence to support pathogenicity.\r\n\r\nPMID: 21572414\r\nGWAS study identified common SNP (V140I - https://gnomad.broadinstitute.org/variant/5-35037010-C-T?dataset=gnomad_r4) showing the strongest association with BAIB in the present study. \nSources: Literature",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-06T10:07:36.572204+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: AGXT2: Rating: RED; Mode of pathogenicity: None; Publications: 21572414; Phenotypes: beta-aminoisobutyric acid, urinary excretion of MONDO:0008860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2025-05-06T09:39:23.931755+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.316",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: LGALSL was added\ngene: LGALSL was added to Incidentalome. Sources: ClinGen\nMode of inheritance for gene: LGALSL was set to Unknown\nPublications for gene: LGALSL were set to 30940688\nPhenotypes for gene: LGALSL were set to Amyotrophic lateral sclerosis\tMONDO:0004976\nReview for gene: LGALSL was set to AMBER\nAdded comment: Classified as LIMITED by ClinGen ALS spectrum disorder GCEP on 14/02/2023 -https://search.clinicalgenome.org/CCID:005279.\r\n\r\nSignificant enrichment in a cohort of 3,239 ALS cases compared to 11,808 controls - OR = 14.63; P = 2.29e-6. \nSources: ClinGen",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2025-05-06T09:36:00.658006+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.316",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TMEM230: Changed rating: RED",
"entity_name": "TMEM230",
"entity_type": "gene"
},
{
"created": "2025-05-06T09:35:08.456196+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.316",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TMEM230 was added\ngene: TMEM230 was added to Incidentalome. Sources: Expert Review\nMode of inheritance for gene: TMEM230 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM230 were set to 30804554; 27270108; 28115417; 28017548; 30804555; 30804556; 31323517\nPhenotypes for gene: TMEM230 were set to Parkinson disease 21, MONDO:0005180\nReview for gene: TMEM230 was set to AMBER\nAdded comment: No new evidence/proband supportive of gene-disease association. \r\n\r\nReview copied from Parkinson Panel: \r\n\"A single family segregating a heterozygous missense (p.Arg141Leu) and supporting functional evidence. However, another group found a DNAJC13 variant in the same family also with supporting functional evidence. A stoploss was also identified in 9 Chinese Parkinson disease probands, however it was identified homozygous in 7 of these with no difference in the severity of phenotype. A similar stop loss was identified in a North American PD case. Another missense was identified in an apparently sporadic PD case (p.Tyr92Cys), but was also present in the unaffected mother (age 57 yrs). Another rare missense has been reported in a case with familial PD. The missense reported in a family from Southern Italy is too common in gnomAD v2.1 for a dominant disease (PMID: 31323517 - p.Ile125Met).\" \nSources: Expert Review",
"entity_name": "TMEM230",
"entity_type": "gene"
},
{
"created": "2025-05-06T09:27:14.526299+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.316",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: UBQLN4 was added\ngene: UBQLN4 was added to Incidentalome. Sources: Expert Review\nMode of inheritance for gene: UBQLN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBQLN4 were set to 28463112; 30804504\nPhenotypes for gene: UBQLN4 were set to amyotrophic lateral sclerosis MONDO:0004976\nReview for gene: UBQLN4 was set to AMBER\nAdded comment: No new evidence/proband supporting gene-disease association. \r\nReview copied from MND panel:\r\n\"A single familial case and supporting functional studies and animal model.\" \nSources: Expert Review",
"entity_name": "UBQLN4",
"entity_type": "gene"
},
{
"created": "2025-05-06T09:07:35.598249+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.316",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TAF15 was added\ngene: TAF15 was added to Incidentalome. Sources: ClinGen\nMode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAF15 were set to 28889094; 21438137; 22065782; 27810362; 28889094\nPhenotypes for gene: TAF15 were set to amyotrophic lateral sclerosis MONDO:0004976; frontotemporal dementia MONDO:0017276\nReview for gene: TAF15 was set to AMBER\nAdded comment: Classified as LIMITED by ClinGen ALS GCEP on 11/03/2021 - https://search.clinicalgenome.org/CCID:006311\r\nReported in individuals with sporadic and familial ALS and in individuals with behavourial FTD. The variants reported in the publications were reported in gnomAD non-neuro cohort including elderly individuals, therefore leading to ClinGen's limited classification. \nSources: ClinGen",
"entity_name": "TAF15",
"entity_type": "gene"
},
{
"created": "2025-05-06T08:59:42.597554+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.316",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GLT8D1 was added\ngene: GLT8D1 was added to Incidentalome. Sources: ClinGen\nMode of inheritance for gene: GLT8D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLT8D1 were set to 30811981; 35525134; 34746377; 33714647; 31653410; 35873773; 33581933\nPhenotypes for gene: GLT8D1 were set to amyotrophic lateral sclerosis MONDO:0004976\nReview for gene: GLT8D1 was set to AMBER\nAdded comment: Classified as LIMITED by ClinGen ALS GCEP on 14/01/2025 - https://search.clinicalgenome.org/CCID:004967\r\n\r\nVariants have been reported in 22 probands however the variants identified had a high population frequency which led to ClinGen's limited classification \nSources: ClinGen",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2025-05-06T08:55:32.326234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ERN1 was added\ngene: ERN1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ERN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ERN1 were set to Immune Dysregulation, MONDO:0005046\nReview for gene: ERN1 was set to RED\nAdded comment: No new evidence to support gene-disease association. Review copied from Disorders of immune dysregulation Panel: \r\n\"On the IUIS 2024 update for IEIs as a gene associated with an AD disease of immune dysregulation, I cannot find any evidence of Mendelian disease.\" \nSources: Expert Review",
"entity_name": "ERN1",
"entity_type": "gene"
},
{
"created": "2025-05-06T08:38:29.686043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FAAHP1 was added\ngene: FAAHP1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: FAAHP1 was set to Unknown\nPublications for gene: FAAHP1 were set to 30929760\nPhenotypes for gene: FAAHP1 were set to Pain insensitivity\nReview for gene: FAAHP1 was set to RED\nAdded comment: Review from Pain Syndromes Panel:\r\n\"This is a pseudogene. A single case with pain insensitivity has been reported with co-inheritance of a microdeletion in dorsal root ganglia and brain-expressed pseudogene and a common functional SNP in FAAH (rs324420 ) conferring reduced expression and activity.\" \nSources: Expert Review",
"entity_name": "FAAHP1",
"entity_type": "gene"
},
{
"created": "2025-05-06T08:27:50.091786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ZNF674 was added\ngene: ZNF674 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZNF674 were set to https://search.clinicalgenome.org/CCID:006588\nPhenotypes for gene: ZNF674 were set to X-linked intellectual disability\tMONDO:0100284\nReview for gene: ZNF674 was set to RED\nAdded comment: Classified DISPUTED by ClinGen ID and Autism GCEP on 04/05/2021 - https://search.clinicalgenome.org/CCID:006588 \nSources: Expert Review",
"entity_name": "ZNF674",
"entity_type": "gene"
},
{
"created": "2025-05-06T08:25:33.735752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ZFR was added\ngene: ZFR was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ZFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFR were set to 24482476\nPhenotypes for gene: ZFR were set to hereditary spastic paraplegia, MONDO:0019064\nReview for gene: ZFR was set to RED\nAdded comment: No new proband/evidence supporting gene-disease association.\r\n\r\nReview copied from HSP paediatric panel:\r\n\"A single family reported with a homozygous variant.\" \nSources: Expert Review",
"entity_name": "ZFR",
"entity_type": "gene"
},
{
"created": "2025-05-06T08:23:08.699768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SNRPA was added\ngene: SNRPA was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SNRPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNRPA were set to 29437235\nPhenotypes for gene: SNRPA were set to complex neurodevelopmental disorder, SNRPA-related\tMONDO:0100038\nReview for gene: SNRPA was set to RED\nAdded comment: No new reported probands supporting the gene-disease association. \r\n\r\nReview copied from ID panel:\r\n\"1 report of concurrence of intellectual disability, short stature, poor speech, and minor craniofacial and hand anomalies in 2 female siblings with 3 homozygous missense variants in SNRPA. Combined, c.97A>G, c.98T>C, and c.100T>A, in exon 2 of SNRPA lead to p.Ile33Ala and p.Phe34Ile exchanges, which were predicted in silico to be deleterious. No functional studies.\" \nSources: Expert Review",
"entity_name": "SNRPA",
"entity_type": "gene"
},
{
"created": "2025-05-05T16:46:02.690093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: WDR48 was added\ngene: WDR48 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR48 were set to 24482476\nPhenotypes for gene: WDR48 were set to Hereditary spastic paraplegia MONDO:0015150\nReview for gene: WDR48 was set to RED\nAdded comment: Gene Reviews - https://www.ncbi.nlm.nih.gov/books/NBK1509/\r\nSPG60 - paediatric onset of complex HSP. \r\nPolyneuropathy and DD are the typical onset of symptoms\r\n\r\nNo new reported probands - review copied from HSP paediatric panel:\r\n\"A single family reported with a homozygous in-frame deletion.\" \nSources: Expert Review",
"entity_name": "WDR48",
"entity_type": "gene"
},
{
"created": "2025-05-05T16:39:10.184391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SH3BP4 was added\ngene: SH3BP4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SH3BP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SH3BP4 were set to 24627108\nPhenotypes for gene: SH3BP4 were set to Peripheral neuropathy, MONDO:0005244\nReview for gene: SH3BP4 was set to RED\nAdded comment: No new information supportive of gene-disease association. \r\n\r\nReview copied from Hereditary Neuropathy_CMT - isolated Panel:\r\n\"A single family reported with inherited peripheral neuropathy, with no functional analyses.\" \nSources: Expert Review",
"entity_name": "SH3BP4",
"entity_type": "gene"
},
{
"created": "2025-05-05T16:14:27.023374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: BRCC3 was added\ngene: BRCC3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: BRCC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BRCC3 were set to 21596366; 33868155; 35815106; 39552268\nPhenotypes for gene: BRCC3 were set to MoyaMoya Disease, syndromic, MONDO:0016820\nReview for gene: BRCC3 was set to AMBER\nAdded comment: The same common ~26kb Xq28 deletion was identified in all affected individuals below. No other evidence of any SNVs.\r\n\r\nAdditional probands with MoyaMoya:\r\nPMID: 35815106 & 39552268\r\nTwo unrelated individuals with MoyaMoya and other neurodevelopmental features. \r\nA hemizygous ~26kb Xq28 deletion was identified in both individuals\r\n\r\n------------------------------\r\nReview from CVM panel:\r\n“PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.\r\n\r\nPMID 33868155, additional report of affected male, with similar deletion.\r\n\r\nNo reports of SNVs identified, including in ClinVar.” \nSources: Expert Review",
"entity_name": "BRCC3",
"entity_type": "gene"
},
{
"created": "2025-05-05T15:52:20.570112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ADGRB3 was added\ngene: ADGRB3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ADGRB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADGRB3 were set to 30659260; 18628273\nPhenotypes for gene: ADGRB3 were set to Intellectual disability MONDO:0001071\nReview for gene: ADGRB3 was set to RED\nAdded comment: No new information supportive of gene-disease association. Review copied from ID panel:\r\n\r\n\"Single family with intragenic bi-allelic duplications and ID reported; association studies with schizophrenia.\" \nSources: Expert Review",
"entity_name": "ADGRB3",
"entity_type": "gene"
},
{
"created": "2025-05-05T15:45:37.007752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ARSI was added\ngene: ARSI was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSI were set to 24482476\nPhenotypes for gene: ARSI were set to Complex spastic paraplegia, MONDO:0015150\nReview for gene: ARSI was set to RED\nAdded comment: No new information supporting gene-disease association. \r\n\r\nReview from HSP paediatric panel - \"Single family reported\" \nSources: Expert Review",
"entity_name": "ARSI",
"entity_type": "gene"
},
{
"created": "2025-05-05T15:32:19.601232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GINS4 was added\ngene: GINS4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: GINS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS4 were set to 36345943\nPhenotypes for gene: GINS4 were set to combined immunodeficiency MONDO:0015131\nReview for gene: GINS4 was set to RED\nAdded comment: No further information has been published to support the gene-disease association. \r\n\r\nReview copied from Combined Immunodeficiency panel:\r\n\"2 affected siblings with compound het variants are reported in a single family.\" \nSources: Expert Review",
"entity_name": "GINS4",
"entity_type": "gene"
},
{
"created": "2025-05-05T15:22:09.536287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Review taken from Phagocyte Defects panel: \r\n\r\n\"A single case with a homozygous variant & some supporting in vitro functional assay.\" \nSources: Literature; to: No new information supporting gene-disease association. Review taken from Phagocyte Defects panel: \r\n\r\n\"A single case with a homozygous variant & some supporting in vitro functional assay.\" \r\nSources: Literature",
"entity_name": "DBF4",
"entity_type": "gene"
},
{
"created": "2025-05-05T15:21:47.703683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DBF4 was added\ngene: DBF4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DBF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBF4 were set to 36841265\nPhenotypes for gene: DBF4 were set to severe congenital neutropenia MONDO:0018542\nReview for gene: DBF4 was set to RED\nAdded comment: Review taken from Phagocyte Defects panel: \r\n\r\n\"A single case with a homozygous variant & some supporting in vitro functional assay.\" \nSources: Literature",
"entity_name": "DBF4",
"entity_type": "gene"
},
{
"created": "2025-05-05T14:55:23.100740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CERS1 was added\ngene: CERS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CERS1 were set to 24782409; 21625621; 30800706\nPhenotypes for gene: CERS1 were set to Epilepsy, progressive myoclonic, 8, MONDO:0020074\nReview for gene: CERS1 was set to GREEN\nAdded comment: Addition of this gene to the Mendeliome - review taken from Genetic Epilepsy Panel\r\n\r\n\"Two unrelated families with PME identified, and functional assays in vitro and in patient cells demonstrating impaired ceramide biosynthesis. Mouse model shows neurodegeneration and lipofuscin accumulation\"\r\n\r\nClassified as MODERATE by ClinGen Epilepsy GCEP on 16/07/2024 - https://search.clinicalgenome.org/CCID:008331 \nSources: Literature",
"entity_name": "CERS1",
"entity_type": "gene"
},
{
"created": "2025-05-04T17:55:14.528065+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAV3 were changed from Neurodevelopmental disorder, MONDO:0700092, NAV3-related to Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities, MIM# 621182",
"entity_name": "NAV3",
"entity_type": "gene"
},
{
"created": "2025-05-04T17:54:48.589261+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAV3: Changed phenotypes: Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities, MIM# 621182",
"entity_name": "NAV3",
"entity_type": "gene"
},
{
"created": "2025-05-04T17:54:32.840823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAV3 were changed from Neurodevelopmental disorder, MONDO:0700092, NAV3-related to Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities, MIM# 621182",
"entity_name": "NAV3",
"entity_type": "gene"
},
{
"created": "2025-05-04T17:54:13.714490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAV3: Changed phenotypes: Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities, MIM# 621182",
"entity_name": "NAV3",
"entity_type": "gene"
}
]
}