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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=52",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=50",
"results": [
{
"created": "2026-01-24T17:07:25.635087+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Green List (High Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:07:06.021876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS51 were set to PMID: 30624672; 31207318",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:06:39.233692+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene VPS51 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-24T17:06:38.933365+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS51 was added\ngene: VPS51 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS51 were set to 40565173; 30624672; 31207318; 40176246\nPhenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM#\t618606",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:06:38.195944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS51 as Green List (high evidence)",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:06:38.183037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Green List (High Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:05:17.283491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: None; Publications: 40176246, 40565173; Phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606; Mode of inheritance: None",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:04:26.296851+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS51 were set to 30624672; 31207318",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:02:19.536993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS51 as Green List (high evidence)",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:02:19.529981+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Green List (High Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:01:47.654264+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246, 40565173; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:01:16.118653+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS51 were set to 30624672; 31207318",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:00:51.195744+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS51 as Green List (high evidence)",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:00:51.186757+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Green List (High Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T17:00:19.844775+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:59:44.369932+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS51 were set to 30624672; 31207318",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:59:17.592084+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS51 as Green List (high evidence)",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:59:17.578489+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Green List (High Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:58:46.261885+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:58:27.600507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS51 were set to 30624672; 31207318",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:58:06.105654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS51: Changed publications: 40565173, 30624672, 31207318, 40176246",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:57:31.509247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS51: Changed publications: 40565173",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:56:59.413346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS51 as Green List (high evidence)",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:56:59.404019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Green List (High Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:56:32.935538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:49:33.001382+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTSSA were set to 36718090",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:49:10.329131+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.; Changed publications: 40533086",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:48:06.636249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTSSA were set to 36718090",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:47:45.347512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; to: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:47:28.117567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; Changed publications: 40533086",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:41:25.622797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYL1 were set to 30215711",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:41:14.100105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYL1 as Green List (high evidence)",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:41:14.089663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl1 has been classified as Green List (High Evidence).",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:41:00.971813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYL1: Added comment: PMID 40488356 reports 4 individuals from 4 unrelated families with biallelic loss‑of‑function MYL1 variants (nonsense, frameshift, splice‑site, missense) presenting with severe congenital myopathy: antenatal/polyhydramnios, early hypotonia, respiratory insufficiency requiring ventilation, feeding difficulties, skeletal fractures, and a distinctive floret‑like pattern of small fast‑twitch fibres on muscle biopsy.; Changed rating: GREEN; Changed publications: 30215711, 40488356",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:40:09.773044+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYL1 were changed from Congenital Myopathy 14 (MIM#618414) to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:39:47.123588+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYL1 were set to 30215711",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:35:08.456739+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYL1 as Green List (high evidence)",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:35:08.444789+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl1 has been classified as Green List (High Evidence).",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:34:28.892103+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:33:21.302334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYL1 were set to 30215711",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:33:01.222121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYL1 as Green List (high evidence)",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:33:01.211500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl1 has been classified as Green List (High Evidence).",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:32:40.965551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYL1",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:28:36.480555+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL6R were set to 31235509",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:28:05.011212+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL6R as Green List (high evidence)",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:28:04.997539+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6r has been classified as Green List (High Evidence).",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:26:42.398704+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids.\r\n\r\nPMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed rating: GREEN; Changed publications: 31235509, 39277818, 40536180",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:25:32.010138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL6R were set to 31235509",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:25:12.364097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL6R as Green List (high evidence)",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:25:12.353792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6r has been classified as Green List (High Evidence).",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:22:47.887150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6R: Changed rating: GREEN",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:22:37.776070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids. \r\n\r\nPMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed publications: 31235509, 39277818, 40536180",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:18:26.287416+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL17RD: Changed rating: RED",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:18:12.315627+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL17RD: Changed rating: RED",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:18:00.897991+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL17RD: Changed rating: RED",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:17:40.114327+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL17RD: Changed rating: RED",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:17:25.082434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL17RD: Changed rating: RED",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:11:10.131453+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC31A were set to 30464055",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:10:52.582824+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Green List (high evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:10:52.570004+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:10:35.069369+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nPMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651, congenital neurodevelopmental syndrome, spastic paraplegia, multiple contractures, profound developmental delay, epilepsy, failure to thrive",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:08:49.376982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC31A were set to 30464055; 40508110",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:08:18.741386+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Green List (high evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T16:08:18.731537+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:57:24.382641+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:56:42.999130+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Green List (high evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:56:42.988884+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:56:13.051780+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:54:18.317206+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC31A were set to 30464055; 40508110",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:53:54.719555+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Green List (high evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:53:54.702918+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T15:53:28.069988+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:05:45.230526+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC31A were set to 30464055; 40508110",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:05:15.295478+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Green List (high evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:05:15.284249+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:04:46.600354+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:59.222512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC31A were set to PMID: 30464055; 40508110",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:30.976088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Green List (high evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:30.966225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:11.193892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SEC31A: Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:00:26.937698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:56:04.532500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEY2 as Amber List (moderate evidence)",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:56:04.521859+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hey2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:55:51.529099+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40481234; Phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:54:45.362801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEY2 as Amber List (moderate evidence)",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:54:45.352485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hey2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:54:23.630744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEY2: Changed rating: AMBER",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:53:15.285433+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEY2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:53:02.687613+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEY2 as Amber List (moderate evidence)",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:53:02.677670+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hey2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:52:37.568672+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEY2: Added comment: PMID 32820247 reports a homozygous loss‑of‑function p.G108* in a Dutch isolate (3 homozygotes, 20 heterozygotes) causing severe congenital heart defects (CHD) and familial thoracic aortic aneurysm/dissection (FTAAD); functional luciferase, Western‑blot and qPCR assays show altered repression. Homozygotes (n = 3) had life-threatening congenital heart defects, while 80% of heterozygous carriers (n = 20) had cardiovascular defects, mainly CHD and FTAA of the ascending aorta.; Changed rating: AMBER; Changed publications: 40481234, 32820247",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:21:12.041966+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Developmental and epileptic encephalopathy 121, MIM# 621475",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:20:38.304270+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:20:20.713175+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:19:40.767730+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LGI1: Changed phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512, Developmental and epileptic encephalopathy 121, MIM# 621475; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:19:19.584302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:18:55.086383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:12:35.049393+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.36",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PLXNA1 as Amber List (moderate evidence)",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:12:35.039044+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.36",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:12:01.535463+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.35",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: PLXNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLXNA1 were set to 28334861; 30467832; 34636164\nPhenotypes for gene: PLXNA1 were set to Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related\nReview for gene: PLXNA1 was set to AMBER\nAdded comment: reported phenotype expansion for monoallelic Kallman syndrome:\r\nPMIDs 28334861 13 families with Kallman syndrome, however only 3 of these variants (His684Tyr Lys1618Thr Cys1744Phe) are absent from gnomad, the rest have at least 6 hets and most have over 20 hets. in transfected cells His684Tyr, Lys1618Thr and some of the common missense variants were shown to result in reduced total amounts of protein. In a minigene assay Cys1744Phe which is at the last base of an exon was shown to cause intron 28 retention which would be out of frame. No variants in this study were noted to be de novo.\r\n\r\nPMID: 30467832 10 missense variants identified in patients with hypogonadotropic hypogonadism. Again some of the reported missense have over 20 hets in gnomad but 5 of the variants are rare or absent Lys1451Arg, Ser1850Arg, Ile1701Val, Pro485Leu and Val536Ile. All of these variants were either inherited from a parent or inheritance was unknown, and 1 individual had a better diagnosis with a nonsense in FGFR1 while other patients had variants in other genes amber for HH. No variants in this study were noted to be de novo.\r\n\r\nPMID: 34636164 another 10 missense variants identified in 11 families with hypogonadotropic hypogonadism. However, only 3 were not common in gnomad; Pro848Arg, Ala1106Val, and Ser1709Leu. Ala1106Val and Ser1709Leu were both inherited from unaffected mothers, and most patients in this study also had variants of interest in other genes. No variants in this study were noted to be de novo.\r\n\r\nSo at least 10 reports of variants that are rare/absent in gnomad with Kallman syndrome, all missense variants, most without segregation information or inherited from unaffected/unknown if affected parents. Some with a bit of functional work. Many patients also have variants of interest in other genes amber or green for the same phenotype. borderline amber/green \nSources: Literature",
"entity_name": "PLXNA1",
"entity_type": "gene"
}
]
}