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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=290",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=288",
"results": [
{
"created": "2025-03-05T13:05:35.427733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPOUT1 was added\ngene: SPOUT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPOUT1 were set to 39962046\nPhenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related\nReview for gene: SPOUT1 was set to GREEN\nAdded comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature). \nSources: Literature",
"entity_name": "SPOUT1",
"entity_type": "gene"
},
{
"created": "2025-03-05T11:19:33.834835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2343",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MRPS28: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: combined oxidative phosphorylation deficiency 47, MONDO:0033537; Mode of inheritance: None",
"entity_name": "MRPS28",
"entity_type": "gene"
},
{
"created": "2025-03-04T14:20:31.926525+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 31696999; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2025-03-04T13:16:33.673830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX2 were changed from CAKUT to CAKUT, MONDO:0019719, SIX2-related",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2025-03-04T13:16:17.248608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIX2: Changed rating: RED; Changed phenotypes: CAKUT, MONDO:0019719, SIX2-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2025-03-04T13:11:35.667627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIN3B were changed from Syndromic intellectual disability/autism spectrum disorder to Neurodevelopmental disorder, MONDO:0700092, SIN3B-related",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2025-03-04T13:11:18.669838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIN3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SIN3B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2025-03-04T13:11:01.117655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIN3B were changed from Syndromic intellectual disability/autism spectrum disorder to Neurodevelopmental disorder, MONDO:0700092, SIN3B-related",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2025-03-04T13:10:21.116737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIN3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SIN3B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIN3B",
"entity_type": "gene"
},
{
"created": "2025-03-04T12:10:43.307016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2341",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PHACTR4 was added\ngene: PHACTR4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PHACTR4 were set to 40012205\nPhenotypes for gene: PHACTR4 were set to Abnormality in embryonic development, MONDO:0019755\nReview for gene: PHACTR4 was set to RED\nAdded comment: The association with human disease phenotype is not yet established - classified as Red.\r\nTwo affected individuals present with overlapping phenotypic features including some neurodevelopmental features. Both having de novo variants (p. Arg622Pro and p.Leu623Pro) located in the RPEL3 repeat domain. \r\np.Leu623Pro was present at 19% VAF in patient two. \nSources: Literature",
"entity_name": "PHACTR4",
"entity_type": "gene"
},
{
"created": "2025-03-04T11:19:39.223497+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 30086867; Phenotypes: Adrenocorticotropic hormone deficiency, MIM# 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2025-03-04T11:18:27.510320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2341",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: New Gene Name: TEDC1\r\nOnly two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous\r\n\r\nPMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].\r\nHomozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease. \r\n\r\nPMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly. \nSources: Literature; to: New HGNC approved Gene Name: TEDC1\r\nOnly two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous\r\n\r\nPMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].\r\nHomozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease. \r\n\r\nPMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly. \r\nSources: Literature",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-04T11:18:04.336188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2341",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: C14orf80 was added\ngene: C14orf80 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf80 were set to 39979680; 38252227\nPhenotypes for gene: C14orf80 were set to Primary microcephaly, MONDO:0016660\nReview for gene: C14orf80 was set to AMBER\nAdded comment: New Gene Name: TEDC1\r\nOnly two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous\r\n\r\nPMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].\r\nHomozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease. \r\n\r\nPMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly. \nSources: Literature",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2025-03-04T11:12:00.551018+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30691927, 27232954; Phenotypes: Salt and pepper developmental regression syndrome, MIM# 609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2025-03-04T10:33:15.821218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2341",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CDO1 was added\ngene: CDO1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CDO1 were set to 39949058\nPhenotypes for gene: CDO1 were set to Neurological Disorder MONDO:0100545\nReview for gene: CDO1 was set to AMBER\nAdded comment: Three children with overlapping neurological features. Three missense de novo variants were identified and were clustered around exon 3 and exon 4.\r\nThe three missense variants identified p.(His147Arg, Ala131Val, Glu143Lys) were classified as VUS due to the insilicos and the lack of other reports and are all absent from gnomAD v4.1. \nSources: Literature",
"entity_name": "CDO1",
"entity_type": "gene"
},
{
"created": "2025-03-04T10:15:59.224630+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DDX39B was added\ngene: DDX39B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX39B were set to 39918047\nPhenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related\nReview for gene: DDX39B was set to GREEN\nAdded comment: Established gene-disease association - epilepsy is a prominent feature in affected individuals.\r\n\r\n6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy.\r\n4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.\r\nIn vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype. \nSources: Literature",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-04T10:15:56.892182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.68",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DDX39B was added\ngene: DDX39B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX39B were set to 39918047\nPhenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related\nReview for gene: DDX39B was set to GREEN\nAdded comment: Established gene-disease association - ID/DD is a prominent feature in affected individuals.\r\n\r\n6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy.\r\n4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.\r\nIn vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype. \nSources: Literature",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-04T10:14:00.137304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2341",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DDX39B was added\ngene: DDX39B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX39B were set to 39918047\nPhenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related\nReview for gene: DDX39B was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\n6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy. \r\n4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.\r\nIn vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype. \nSources: Literature",
"entity_name": "DDX39B",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:05:26.169275+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA1 as ready",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:05:26.161521+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:05:19.225329+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA1 as Green List (high evidence)",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:05:19.216148+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:04:34.670028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA1 was added\ngene: SMARCA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMARCA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SMARCA1 were set to 37841849\nPhenotypes for gene: SMARCA1 were set to Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related\nReview for gene: SMARCA1 was set to GREEN\nAdded comment: 40 individuals from 30 families with NDD and variants in this gene reported in this preprint, publication imminent \nSources: Literature",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:02:30.655737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:02:11.518308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA1 were set to 26740508; 26539891; 29249292",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:01:53.033472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:01:36.000434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA1 as Green List (high evidence)",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:01:35.993216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T08:01:17.039815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37841849; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:28.865000+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GNA13 as ready",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:28.858877+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gna13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:25.293793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GNA13 as ready",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:25.284984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gna13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:21.852787+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GNA13 as Amber List (moderate evidence)",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:21.848558+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only a single recurrent variant reported at this point.",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:21.826913+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gna13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:15.075088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GNA13 as Amber List (moderate evidence)",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:15.072138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only a single recurrent variant reported at this point.",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:44:15.057234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gna13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:43:40.930829+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNA13 was added\ngene: GNA13 was added to Mosaic skin disorders. Sources: Literature\nMode of inheritance for gene: GNA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNA13 were set to 39966435\nPhenotypes for gene: GNA13 were set to Ito hypomelanosis MONDO:0010302\nMode of pathogenicity for gene: GNA13 was set to Other\nReview for gene: GNA13 was set to AMBER\nAdded comment: 4 unrelated cases with a recurrent post-zygotic GNA13 variant (NM_006572.4:c.599G>A p.Arg200Lys) with a syndrome including hypomelanosis of Ito associated with developmental anomalies. In vitro assays demonstrate a gain of function for the variant. Q226L was an artificial variant demonstrating a gain of function similar to R200K. The suggested mechanism of disease is through upregulation of the RHOA/ROCK pathway altering melanocyte function. \nSources: Literature",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-04T07:43:35.696808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2336",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNA13 was added\ngene: GNA13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GNA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNA13 were set to 39966435\nPhenotypes for gene: GNA13 were set to Ito hypomelanosis MONDO:0010302\nMode of pathogenicity for gene: GNA13 was set to Other\nReview for gene: GNA13 was set to AMBER\nAdded comment: 4 unrelated cases with a recurrent post-zygotic GNA13 variant (NM_006572.4:c.599G>A p.Arg200Lys) with a syndrome including hypomelanosis of Ito associated with developmental anomalies. The variant was identified in one patient via exome sequencing of paired tissue/blood and then targeted GNA13 testing of other cases. In vitro assays demonstrate a gain of function for the variant. Q226L was an artificial variant demonstrating a gain of function similar to R200K. The suggested mechanism of disease is through upregulation of the RHOA/ROCK pathway altering melanocyte function. \nSources: Literature",
"entity_name": "GNA13",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:44:00.361098+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:44:00.349781+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:43:51.121962+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPTAN1 as Green List (high evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:43:51.116047+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:43:35.777308+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPTAN1 was added\ngene: SPTAN1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTAN1 were set to 36331550\nPhenotypes for gene: SPTAN1 were set to Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813\nMode of pathogenicity for gene: SPTAN1 was set to Other\nReview for gene: SPTAN1 was set to GREEN\ngene: SPTAN1 was marked as current diagnostic\nAdded comment: 15/31 individuals from 26 unrelated families carrying heterozygous variants in SPTAN1 manifested ataxia, usually with HSP. There were 2 patients with pure ataxia. Suggested that the mechanism of disease for these heterozygous variants was suspected to be dominant negative. Variable age of onset from paediatric to adult onset. \nSources: Literature",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:38:46.593267+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:38:46.584119+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:28:27.301754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40023774; Phenotypes: distal myopathy MONDO:0018949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:28:23.478387+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from distal myopathy to distal myopathy MONDO:0018949",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:26:32.546275+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPTAN1 as Green List (high evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:26:32.539838+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T20:25:45.425290+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPTAN1 was added\ngene: SPTAN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTAN1 were set to 40023774\nPhenotypes for gene: SPTAN1 were set to distal myopathy\nReview for gene: SPTAN1 was set to GREEN\ngene: SPTAN1 was marked as current diagnostic\nAdded comment: 20 cases from 14 families with early childhood onset distal myopathy with heterozygous loss of function variants. \nSources: Literature",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2025-03-03T17:07:35.908786+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29343804, 26299366, 27246907; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2025-03-03T17:00:13.682081+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31275356, 29282041, 18356746; Phenotypes: Schimke immunoosseous dysplasia, MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:59:13.811265+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26973221, 22864630, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:51:20.699408+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600044, 10926824; Phenotypes: Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:49:21.298447+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 34414925, 25714577; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:48:29.368646+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 29464431, 29464431, 20920667; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:46:47.342402+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 32796131, 11528383, 32154989; Phenotypes: Congenital myopathy 3 with rigid spine, MIM# 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:45:40.216861+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia.\r\n\r\nHGNC approved symbol/name: SCNN1A\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nTreatments available: Yes, supplementary sodium, but not mineralocorticoids\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes; to: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia.\r\n\r\nHGNC approved symbol/name: SCNN1A\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nTreatments available: Yes, supplementary sodium, but not mineralocorticoids\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes\r\n\r\nNOTE: Limited evidence for association between mono-allelic variants and disease (bronchiectasis with or without elevated sweat chloride 2, MIM# 613021; Liddle syndrome 3, MIM# 618126)",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:45:30.796607+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23416952, 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:44:35.330404+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200523, 23993197, 23798057, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11, MIM# 612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:43:13.731350+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:41:56.204576+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26589312, 27161889, 26960553; Phenotypes: Phosphoserine phosphatase deficiency , MIM# 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:39:52.774755+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MKL1.",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:39:36.601534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MKL1.",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:38:42.158666+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 31741823, 19793312; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:36:24.814533+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17923109, 24183756, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, MIM# 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:35:19.907760+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:35:11.561345+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637490, 21855841, 38561452; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:34:44.784043+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBFOX3: Added comment: Two additional families identified in the GeL 100K dataset: two sibs with missense variant and one additional proband with LoF variant. However, no segregation performed.; Changed publications: 35951651, 36117209, 24039908, 40011789",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:34:05.488868+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34161861, 33579342; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:32:20.262984+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13A as ready",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:32:20.252211+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:32:03.875432+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UNC13A was added\ngene: UNC13A was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UNC13A were set to 40011789\nPhenotypes for gene: UNC13A were set to Monogenic diabetes, MONDO:0015967, UNC13A-related\nReview for gene: UNC13A was set to RED\nAdded comment: Two probands in the GeL 100K dataset with LoF variants and diabetes. No segregation data available. Some supportive mouse data. LoF variants also observed in controls, leading authors to speculate regarding penetrance. \nSources: Literature",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:16:47.346406+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "changed review comment from: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D. \r\n\r\nClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f. \r\n\r\nHGNC approved symbol/name: PLEC\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)\r\nGene reported in 3 independent families: Yes\r\n\r\nNOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950; to: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D. \r\n\r\nClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f. \r\n\r\nHGNC approved symbol/name: PLEC\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)\r\nGene reported in 3 independent families: Yes\r\n\r\nNOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:16:01.501001+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "changed review comment from: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D. \r\n\r\nClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f. \r\n\r\nHGNC approved symbol/name: PLEC\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)\r\nGene reported in 3 independent families: Yes\r\n\r\nNOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950; to: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D. \r\n\r\nClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f. \r\n\r\nHGNC approved symbol/name: PLEC\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)\r\nGene reported in 3 independent families: Yes\r\n\r\nNOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:15:42.542374+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28447722, 25556389, 32576226; Phenotypes: Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487, Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138, Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:13:00.759282+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:13:00.748768+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Red List (Low Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:12:54.300314+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMK was added\ngene: POMK was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: POMK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POMK were set to 40011789\nPhenotypes for gene: POMK were set to Anterior segment dysgenesis, MONDO:0019503, POMK-related\nReview for gene: POMK was set to RED\nAdded comment: 3 individuals with anterior segment dysgenesis and mono allelic variants in POMK identified. However, note variants are inherited with insufficient segregation evidence and/or present in gnomAD. Although there is supportive animal model evidence, note that biallelic POMK disease does comprise eye phenotypes. \nSources: Literature",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2025-03-03T16:00:11.051944+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8940266, 22894767; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862, Peroxisome biogenesis disorder-4B, MIM# 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2025-03-03T15:58:20.220944+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32455636, 19308961, 3827281, 36757671, 16470701; Phenotypes: Prolidase deficiency, MIM# 170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2025-03-03T15:57:27.184643+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26059767, 31441224, 25135652; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2025-03-03T15:56:29.437264+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32153630, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2025-03-03T15:54:32.088965+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731; Phenotypes: Intellectual developmental disorder, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2025-03-03T15:51:34.632953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2335",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "commented on gene: MKL1",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2025-03-03T15:51:11.184605+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1566",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:28:11.445480+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:28:11.435724+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:28:06.724674+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from Immune dysregulation to Immunodeficiency 36 MIM#616005",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:27:44.508144+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3R1 as Green List (high evidence)",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:27:44.501868+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:26:40.371124+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CD as ready",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:26:40.364384+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Green List (High Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:26:37.635841+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CD were changed from Immune dysregulation to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:25:52.189110+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CD as Green List (high evidence)",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:25:52.182196+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Green List (High Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:24:06.787772+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC31A1: Changed phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC31A1",
"entity_type": "gene"
}
]
}