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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=146",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=144",
"results": [
{
"created": "2025-10-17T14:15:19.834139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A2 was added\ngene: SLC7A2 was added to Mendeliome. Sources: Literature\nfounder tags were added to gene: SLC7A2.\nMode of inheritance for gene: SLC7A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A2 were set to 41015522\nPhenotypes for gene: SLC7A2 were set to Leukodystrophy, MONDO:0019046, SLC7A2-related\nReview for gene: SLC7A2 was set to AMBER\nAdded comment: RAVINE leukoencephalopathy (RLE) is a hereditary autosomal recessive disease characterized by typical clinical and radiological signs that has so far been observed only in patients of Reunionese origin. The term RAVINE is a French acronym for the main clinical features of the disease: Réunion, Anorexie, Vomissements Incoercibles, signes NEurologiques (Reunion, Anorexia, Intractable Vomiting, NEurological signs). Patients with RLE carry the IVS1-1778A>G mutation of the SLC7A2 gene in the homozygous state.\r\n\r\nOnset is in infancy. Death typically occurs before the age of 28months in a very narrow time window (23.0±2.2months).\r\n\r\nPMID 41015522 summarises data from 40 affected individuals. \nSources: Literature",
"entity_name": "SLC7A2",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:08:36.774011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMOT as ready",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:08:36.763147+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amot has been classified as Red List (Low Evidence).",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:08:31.447440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMOT as Red List (low evidence)",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:08:31.436033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amot has been classified as Red List (Low Evidence).",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:08:21.780429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMOT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:08:06.414411+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMOT as ready",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:08:06.406718+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amot has been classified as Red List (Low Evidence).",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:07:48.259810+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMOT as Red List (low evidence)",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:07:48.252608+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amot has been classified as Red List (Low Evidence).",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:07:24.485393+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMOT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:07:05.445809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMOT as ready",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:07:05.434834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amot has been classified as Red List (Low Evidence).",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:06:57.432983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMOT as Red List (low evidence)",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:06:57.425350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amot has been classified as Red List (Low Evidence).",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:06:42.277578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMOT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:05:32.800445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3B as ready",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:05:32.792890+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:05:29.086220+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3B as Green List (high evidence)",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:05:29.075393+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T14:05:04.050641+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3B was added\ngene: EIF3B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3B were set to 41033306\nPhenotypes for gene: EIF3B were set to Syndromic disease (MONDO:0002254), EIF3B-related\nReview for gene: EIF3B was set to GREEN\nAdded comment: Fourteen individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:57:27.760793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3B as ready",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:57:27.742393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:57:19.266508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3B as Green List (high evidence)",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:57:19.260132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:57:01.624519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3B was added\ngene: EIF3B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3B were set to 41033306\nPhenotypes for gene: EIF3B were set to Syndromic disease (MONDO:0002254), EIF3B-related\nReview for gene: EIF3B was set to GREEN\nAdded comment: Fourteen individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:55:35.738855+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3B as ready",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:55:35.728908+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:55:32.555545+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3B as Green List (high evidence)",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:55:32.547387+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:55:08.140646+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3B was added\ngene: EIF3B was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3B were set to 41033306\nPhenotypes for gene: EIF3B were set to Syndromic disease (MONDO:0002254), EIF3B-related\nReview for gene: EIF3B was set to GREEN\nAdded comment: Fourteen individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:53:50.922497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature; to: Fourteen individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \r\nSources: Literature",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:53:26.482112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3B as ready",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:53:26.472037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:53:21.997660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3B as Green List (high evidence)",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:53:21.990138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3b has been classified as Green List (High Evidence).",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:53:13.096282+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3B was added\ngene: EIF3B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3B were set to 41033306\nPhenotypes for gene: EIF3B were set to Syndromic disease (MONDO:0002254), EIF3B-related\nReview for gene: EIF3B was set to GREEN\nAdded comment: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3B",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:52:08.893745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3A as ready",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:52:08.882970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:52:04.252912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3A as Green List (high evidence)",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:52:04.241622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:51:55.299400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3A was added\ngene: EIF3A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3A were set to 41033306\nPhenotypes for gene: EIF3A were set to Syndromic disease (MONDO:0002254), EIF3A-related\nReview for gene: EIF3A was set to GREEN\nAdded comment: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:50:59.104227+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3A as ready",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:50:59.093481+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:50:54.844770+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3A as Green List (high evidence)",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:50:54.836780+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:50:17.059947+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3A was added\ngene: EIF3A was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3A were set to 41033306\nPhenotypes for gene: EIF3A were set to Syndromic disease (MONDO:0002254), EIF3A-related\nReview for gene: EIF3A was set to GREEN\nAdded comment: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:49:52.672963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3A as ready",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:49:52.657280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:49:12.164915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3A as Green List (high evidence)",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:49:12.157832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:48:56.871550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3A was added\ngene: EIF3A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3A were set to 41033306\nPhenotypes for gene: EIF3A were set to Syndromic disease (MONDO:0002254), EIF3A-related\nReview for gene: EIF3A was set to GREEN\nAdded comment: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:47:50.221936+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3A as ready",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:47:50.209773+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:47:43.773037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3A as Green List (high evidence)",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:47:43.762368+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3a has been classified as Green List (High Evidence).",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:47:22.064926+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature; to: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. \r\nSources: Literature",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:47:13.221617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF3A: Changed rating: GREEN",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:47:06.826571+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF3A was added\ngene: EIF3A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF3A were set to 41033306\nPhenotypes for gene: EIF3A were set to Syndromic disease (MONDO:0002254), EIF3A-related\nAdded comment: Four individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral abnormalities. Zebrafish model recapitulated phenotype. \nSources: Literature",
"entity_name": "EIF3A",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:48.097665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF1 as ready",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:48.087231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf1 has been classified as Green List (High Evidence).",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:39.677494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF1 as Green List (high evidence)",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:39.666748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf1 has been classified as Green List (High Evidence).",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:21.668586+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF1 as ready",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:21.660456+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf1 has been classified as Green List (High Evidence).",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:15.257546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF1 as Green List (high evidence)",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:43:15.248448+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf1 has been classified as Green List (High Evidence).",
"entity_name": "SF1",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:42.098460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDGA2 as ready",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:42.087901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdga2 has been classified as Green List (High Evidence).",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:34.135483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDGA2 as Green List (high evidence)",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:34.128162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdga2 has been classified as Green List (High Evidence).",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:15.601483+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDGA2 as ready",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:15.590210+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdga2 has been classified as Green List (High Evidence).",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:10.024008+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDGA2 as Green List (high evidence)",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:42:10.015689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdga2 has been classified as Green List (High Evidence).",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:41:35.275025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MDGA2 was added\ngene: MDGA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MDGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDGA2 were set to https://doi.org/10.1101/2025.08.28.25330873; 40168357; 27608760\nPhenotypes for gene: MDGA2 were set to MDGA2-related neurodevelopmental disorder MONDO:0700092\nReview for gene: MDGA2 was set to GREEN\nAdded comment: Affected individuals present with a broad neurodevelopmental impairment-like phenotype.\r\n\r\nPre-print - https://doi.org/10.1101/2025.08.28.25330873\r\nIndividuals with developmental and epileptic encephalopathy (DEE)\r\n8 individuals from 6 consanguineous families exhibiting infantile hypotonia, severe neurodevelopmental delay, intractable seizures, progressive brain atrophy, and consistent dysmorphic features.\r\n7 different biallelic LoF variants were identified\r\np.Tyr913Ter, p.Arg404Ter, p.Leu920Ter, c.421-1G>A, p.Lys391SerfsTer7 and c.421-96_595+99del - all variants are rare or absent in gnomAD v4.1\r\nIn vitro functional studies of three nonsense variants in mammalian expression systems and hippocampal cultured neurons that resulted in impaired MDGA2 membrane trafficking are supportive of a loss-of-function mechanism.\r\n\r\nPMID: 40168357, 27608760\r\nA knockout mouse model showed that MGAD2-deficient mice presented with autism-like behaviours (social deficits, repetitive behaviour, and cognitive impairment).\r\nThe mice also showed abnormalities in excitatory synapses. \nSources: Literature",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:40:09.642882+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDGA2 as ready",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:40:09.635207+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdga2 has been classified as Green List (High Evidence).",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:39:59.679115+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDGA2 as Green List (high evidence)",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:39:59.672123+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdga2 has been classified as Green List (High Evidence).",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:38:37.369771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT4 were set to 22503279; 21377155; 16959810; 18179883; 15317892; 18182450",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:38:19.803924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WNT4: Added comment: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome has only been described in a single consanguineous kindred with four affected fetuses.\r\n\r\nPMID 40992710 reports second affected family, consanguineous, which had an affected fetus with CDH and an affected child had orofacial clefting.\r\nA subset of Wnt4 null mouse embryos had perimembranous VSDs, anterior and posterior sac CDH, and soft palate clefts.\r\n\r\nBi-allelic association: two consanguineous families and a mouse model, maintain AMBER rating.; Changed publications: 22503279, 21377155, 16959810, 18179883, 40992710",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:37:11.021863+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT4 were set to 22503279; 21377155; 16959810; 18179883; 15317892; 18182450",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:36:53.990349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WNT4: Changed publications: 22503279, 21377155, 16959810, 18179883, 15317892, 18182450, 40992710",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:36:26.104191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: WNT4: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome has only been described in a single consanguineous kindred with four affected fetuses.\r\n\r\nPMID 40992710 reports second affected family, consanguineous, which had an affected fetus with CDH and an affected child had orofacial clefting.\r\n\r\nA subset of Wnt4 null mouse embryos had perimembranous VSDs, anterior and posterior sac CDH, and soft palate clefts.\r\n\r\nBi-allelic association: two consanguineous families and a mouse model, maintain AMBER rating.",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:30:31.694946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to multiple congenital anomalies, MONDO:0019042, PDIA6-related",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:30:18.989335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDIA6 were set to 33495992",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:30:00.911770+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Green List (high evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:30:00.901191+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Green List (High Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:29:44.920396+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to multiple congenital anomalies, MONDO:0019042, PDIA6-related",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:29:33.150667+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDIA6 were set to PMID: 33495992",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:29:08.034511+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Green List (high evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:29:08.023810+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Green List (High Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:27:55.941515+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to multiple congenital anomalies, MONDO:0019042, PDIA6-related",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:27:31.120275+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDIA6 were set to PMID: 33495992",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:27:01.319233+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Green List (high evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:27:01.308352+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Green List (High Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:26:33.751817+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDIA6 were set to PMID: 33495992",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:26:05.814289+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDIA6 were changed from Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes to multiple congenital anomalies, MONDO:0019042, PDIA6-related",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2025-10-17T13:25:31.571993+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Green List (high evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
}
]
}