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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=17",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=15",
"results": [
{
"created": "2026-03-19T15:58:12.878160+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.71",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:58:12.871062+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.71",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:58:11.462309+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.71",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TBCE as Green List (high evidence)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:58:11.451688+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.71",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:58:06.782142+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Adrenal insufficiency. Sources: Literature\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to 39086450\nPhenotypes for gene: TBCE were set to hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426\nReview for gene: TBCE was set to GREEN\nAdded comment: PMID 33150438 describes a cohort of 63 patients with HRD syndrome, 62 of whom harbor the same homozygous c.155_166del12 deletion and one with homozygous c.207_208delTA. Adrenal glucocorticoid insufficiency was diagnosed in 22% of patients. \nSources: Literature",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:56:35.756740+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:56:35.750116+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:56:33.165644+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TBCE as Green List (high evidence)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:56:33.158313+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:56:28.113453+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to 39086450; 33150438; 26336027\nPhenotypes for gene: TBCE were set to hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426\nReview for gene: TBCE was set to GREEN\nAdded comment: PMID 33150438 describes a cohort of 63 patients with HRD syndrome, 62 of whom harbor the same homozygous c.155_166del12 deletion and one with homozygous c.207_208delTA. Hypothyroidism was found in 36% of patients.\r\n\r\nPMID 26336027 reports a Moroccan child with HRD syndrome and congenital hypothyroidism with the homozygous c.155_166del12 deletion.\r\n\r\nPMID 39086450 reports a Libyan child with HRD syndrome and congenital hypothyroidism with the homozygous c.155_166del12 deletion. \nSources: Literature",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:32:35.153382+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: C14orf80 as ready",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:32:35.146650+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Red List (Low Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:32:34.066505+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: C14orf80 as Red List (low evidence)",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:32:34.056950+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Red List (Low Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:32:29.473958+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.68",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: C14orf80 was added\ngene: C14orf80 was added to Adrenal insufficiency. Sources: Literature\nMode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf80 were set to 39979680; 38252227; 30842647\nPhenotypes for gene: C14orf80 were set to Syndromic disease, MONDO:0002254\nReview for gene: C14orf80 was set to RED\nAdded comment: Adrenal insufficiency only reported in 2 male siblings from 1 non-consanguineous family with biallelic loss‑of‑function TEDC1 variants (c.104-5C>G and p.Ala263LeufsTer29). They also had prenatal‑onset severe growth impairment, primary microcephaly, primary hypogonadism, congenital glaucoma, craniosynostosis, tracheal stenosis and developmental delay. Functional studies demonstrate loss of TEDC1 protein, disrupted TEDC2 binding, cell‑cycle defects in patient lymphoblastoid cells, and recapitulation of growth and cranial phenotypes in a tedc1‑/‑ zebrafish model.\r\n\r\nTotal of 5 individuals from 3 families reported with biallelic loss‑of‑function TEDC1 variants, presenting with developmental delay and microcephaly. \nSources: Literature",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:20:19.636578+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.67",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CPOX as ready",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:20:19.628145+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.67",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:20:17.474709+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.67",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CPOX as Green List (high evidence)",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:20:17.466690+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.67",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2026-03-19T15:20:04.261180+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.66",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CPOX was added\ngene: CPOX was added to Adrenal insufficiency. Sources: Literature\nMode of inheritance for gene: CPOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPOX were set to 40857591; 40481674; 40296768\nPhenotypes for gene: CPOX were set to harderoporphyria, MONDO:0030048\nReview for gene: CPOX was set to GREEN\nAdded comment: ClinGen DEFINITIVE association (Jan 2023).\r\n\r\nChildhood‑onset primary adrenal insufficiency reported in 5 individuals from 4 unrelated families with biallelic loss‑of‑function CPOX variants, with 3 individuals also having 46,XY DSD (PMID 40296768 and 40481674). \nSources: Literature",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:58:48.580637+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.249",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene TOMM7 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T14:58:48.478743+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.249",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: TOMM7 was added\ngene: TOMM7 was added to Syndromic Retinopathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOMM7 were set to 36299998; 36282599\nPhenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, MIM# 620601",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:58:46.925690+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.421",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene TOMM7 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T14:58:46.740182+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.421",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: TOMM7 was added\ngene: TOMM7 was added to Microcephaly. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOMM7 were set to 36299998; 36282599\nPhenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, MIM# 620601",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:58:09.217427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.544",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene TOMM7 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T14:58:08.920977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.544",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: TOMM7 was added\ngene: TOMM7 was added to Fetal anomalies. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOMM7 were set to 36299998; 36282599\nPhenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, MIM# 620601",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:54:40.317978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4586",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: TOMM7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39615461, 36299998, 36282599; Phenotypes: Garg-Mishra progeroid syndrome, MIM#620601; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:35:21.249822+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: GFER as ready",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:35:21.241218+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gfer has been classified as Red List (Low Evidence).",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:35:17.370355+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GFER was added\ngene: GFER was added to Adrenal insufficiency. Sources: Literature\nMode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFER were set to 26018198\nPhenotypes for gene: GFER were set to Mitochondrial disease, MONDO:0044970\nReview for gene: GFER was set to RED\nAdded comment: ClinGen DEFINITIVE association with disease (Sep'23).\r\nOnly 1 patient aged 19 years reported with infancy onset adrenal insufficiency. \nSources: Literature",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:10:29.546048+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:10:29.531772+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:10:27.678593+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HSD17B4 as Green List (high evidence)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:10:27.672033+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.64",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:10:21.592731+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.63",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Adrenal insufficiency. Sources: Literature,ClinGen\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD17B4 were set to 40416444; 32904102; 32528852\nPhenotypes for gene: HSD17B4 were set to d-bifunctional protein deficiency, MONDO:0009855\nReview for gene: HSD17B4 was set to GREEN\nAdded comment: ClinGen DEFINITIVE association with disease (Apr 2020).\r\n\r\nAdrenal insufficiency reported in 5 individuals from 3 unrelated families with D‑bifunctional protein deficiency due to biallelic loss‑of‑function HSD17B4 variants. \nSources: Literature, ClinGen",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:01:38.092630+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: MAGEL2 as ready",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:01:38.085411+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: magel2 has been classified as Green List (High Evidence).",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2026-03-19T14:00:59.796214+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene MAGEL2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T14:00:59.715297+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.177",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MAGEL2 was added\ngene: MAGEL2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: MAGEL2 were set to 33820833; 24076603; 31397880; 29599419; 30302899\nPhenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, MIM# 615547",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:55:38.161470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4586",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: A male individual presenting with impaired intelligence, short stature, frequent hypoglycaemia and periodic fever.\r\nHemizygous variant was identified in the proband c.736 C>T p.(Arg246*) - absent from gnomAD v4.1; to: Additional male individual presenting with impaired intelligence, short stature, frequent hypoglycaemia and periodic fever.\r\nHemizygous variant was identified in the proband c.736 C>T p.(Arg246*) - absent from gnomAD v4.1",
"entity_name": "KLHL15",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:55:20.862102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4586",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KLHL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 37452054; Phenotypes: intellectual disability, X-linked 103 MONDO:0010508; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KLHL15",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:52:19.163631+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: FOXA2 as ready",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:52:19.157170+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: foxa2 has been classified as Green List (High Evidence).",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:52:12.491788+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PROP1 as ready",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:52:12.484878+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: prop1 has been classified as Green List (High Evidence).",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:52:07.010102+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Well-established gene-disease association; Over 30 unrelated families with homozygous/ compound heterozygous (small deletions, frameshift, insertions, missense, nonsense and splice) PROP1 variants. The majority of patients present with complete absence of puberty, dwarfism and low GH, PRL, TSH, LH, and FSH associated with severe hypoplasia of the pituitary gland. Most affected individuals are ascertained due to growth failure (early childhood) and failure to thrive starting in infancy.; to: Well-established gene-disease association; Over 30 unrelated families with homozygous/ compound heterozygous (small deletions, frameshift, insertions, missense, nonsense and splice) PROP1 variants. The majority of patients present with complete absence of puberty, dwarfism and low GH, PRL, TSH, LH, and FSH associated with severe hypoplasia of the pituitary gland. Most affected individuals are ascertained due to growth failure (early childhood) and failure to thrive starting in infancy. \r\n\r\n10 individuals developed progressive ACTH deficiency around mid 20s.",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:48:49.893996+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PROP1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T13:48:49.823102+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PROP1 were set to 20301521, 31090814\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 MIM# 262600",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:45:01.904742+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.61",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FOXA2 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T13:45:01.707549+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FOXA2 was added\ngene: FOXA2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXA2 were set to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151\nPhenotypes for gene: FOXA2 were set to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:35:20.584553+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: IARS2 as ready",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:35:20.576955+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: iars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:35:18.747876+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: IARS2 as Amber List (moderate evidence)",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:35:18.737430+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: iars2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:35:11.787739+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.59",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: IARS2 was added\ngene: IARS2 was added to Adrenal insufficiency. Sources: Literature\nMode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS2 were set to 30419932\nPhenotypes for gene: IARS2 were set to cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, MONDO:0014455\nReview for gene: IARS2 was set to AMBER\nAdded comment: Established gene-disease association with cataract‑growth hormone deficiency‑sensory neuropathy‑sensorineural hearing loss‑skeletal dysplasia (CAGSSS) syndrome.\r\n\r\nPMID 30419932 reports 2 unrelated individuals with the same homozygous missense variant in IARS2 gene (p.Pro909Ser) presenting with CAGSSS syndrome and central adrenal insufficiency. \nSources: Literature",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:30:39.958951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4586",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: POU3F4 upstream regulatory region was added\nRegion: POU3F4 upstream regulatory region was added to Mendeliome. Sources: Literature\nMode of inheritance for Region: POU3F4 upstream regulatory region was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: POU3F4 upstream regulatory region were set to PMID: 41170199, 35189936, 33860785\nPhenotypes for Region: POU3F4 upstream regulatory region were set to Deafness, X-linked 2 MIM#304400\nReview for Region: POU3F4 upstream regulatory region was set to AMBER\nAdded comment: POU3F4 encodes POU domain, class III, transcriptional factor 4, a transcription factor with functional targets not fully elucidated but known to affect expression of GJB6, EPHA4 and EFNB2 in development. \r\n\r\n17 patients reported across a number of publications with deletions sized between 8kb to 1.74mb upstream of POU3F4 presented with X linked deafness. \r\n\r\nYang et al PMID: 41170199 reported 4 male individuals from one pedigree with deafness segregating with the upstream deletion. \r\nqPCR demonstrated reduced mRNA expression of POU3F4 in two affected males with the deletion with normal levels in their unaffected father. \r\n\r\nIt is proposed this deletion is removing an upstream enhancer element however functional studies have not been performed to demonstrate this as of yet. \r\n\r\nThe coordinates used in this entry are the largest reported to cause the phenotype most deletions reported in affected individuals were smaller. \nSources: Literature",
"entity_name": "POU3F4 upstream regulatory region",
"entity_type": "region"
},
{
"created": "2026-03-19T13:25:10.516441+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.204",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene WNT4 from panel Adrenal insufficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T13:21:42.126304+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: WNT4 as ready",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:21:42.116669+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wnt4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:21:33.278045+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WNT4 as Amber List (moderate evidence)",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:21:33.244510+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wnt4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:20:40.151881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4585",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene WNT4 from panel Adrenal insufficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T13:20:27.294542+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene WNT4 from panel Adrenal insufficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T13:19:04.602685+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.58",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WNT4 as Amber List (moderate evidence)",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:19:04.595264+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.58",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wnt4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:18:57.032975+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.57",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: WNT4: Added comment: A male fetus from consanguineous family with features of SERKAL syndrome (bilateral diaphragma genesis, pulmonary hypoplasia, bilateral renal hypoplasia with cystic dysplasia, RT adrenal agenesis, LT adrenal hypoplasia), and a homozygous missense variant in WNT4 gene (T291R) with parents as heterozygous carriers. Wnt4 -/- mice had ventricular septal defects, small/absent kidneys, sac hernias of diaphragm, and cleft soft palate.; Changed rating: AMBER; Changed publications: 40992710",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:01:20.462965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4584",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Addtional publication to support review from 2020\r\n\"2 families reported with missense variants, one de novo and one segregating in a six-generation pedigree. Functional studies in zebrafish showed the variants result in impaired rhodopsin trafficking.\"\r\n\r\nGDA to remain as AMBER; to: Addition of publication to support review from 2020\r\n\"2 families reported with missense variants, one de novo and one segregating in a six-generation pedigree. Functional studies in zebrafish showed the variants result in impaired rhodopsin trafficking.\"\r\n\r\nGDA to remain as AMBER",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2026-03-19T13:00:32.949905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4584",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KIF3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34455394; Phenotypes: ciliopathy MONDO:0005308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:53:28.818640+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TRANK1 as ready",
"entity_name": "TRANK1",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:53:28.807893+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trank1 has been classified as Red List (Low Evidence).",
"entity_name": "TRANK1",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:51:56.494794+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.248",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene TRANK1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T12:51:56.314655+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRANK1 was added\ngene: TRANK1 was added to Autism. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TRANK1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TRANK1 were set to 38649688; 30504930\nPhenotypes for gene: TRANK1 were set to Autism, MONDO:0005260",
"entity_name": "TRANK1",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:50:35.987810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4584",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: TRANK1 as ready",
"entity_name": "TRANK1",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:50:35.977690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4584",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trank1 has been classified as Red List (Low Evidence).",
"entity_name": "TRANK1",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:49:58.689650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4584",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRANK1 was added\ngene: TRANK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRANK1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TRANK1 were set to 38649688; 30504930\nPhenotypes for gene: TRANK1 were set to Autism, MONDO:0005260\nReview for gene: TRANK1 was set to RED\nAdded comment: PMID 30504930 describes 2 unrelated individuals with de novo TRANK1 missense variants (p.Val901Ile and p.Thr2109Lys) and autism spectrum disorder (ASD). No functional studies. \r\n\r\nPMID 38649688 identifies 2 brothers from a consanguineous family with a homozygous TRANK1 missense variant (p.Glu273Gly) presenting with ASD, non‑verbal status and associated behavioural traits. Parents heterozygous carriers with no phenotype. No functional studies. \nSources: Literature",
"entity_name": "TRANK1",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:31:50.975138+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: GLTP as ready",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:31:50.967231+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gltp has been classified as Green List (High Evidence).",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:27:38.369815+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GLTP from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T12:27:38.206093+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GLTP was added\ngene: GLTP was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Literature\nMode of inheritance for gene: GLTP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLTP were set to 41642656\nPhenotypes for gene: GLTP were set to Ichthyosis, MONDO:0019269; Epidermal differentiation disorder",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:26:39.552556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4583",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: GLTP as ready",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:26:39.542081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4583",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gltp has been classified as Green List (High Evidence).",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:25:17.938833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4583",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GLTP as Green List (high evidence)",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:25:17.928943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4583",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gltp has been classified as Green List (High Evidence).",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:25:04.885084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4582",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GLTP was added\ngene: GLTP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GLTP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLTP were set to 41642656\nPhenotypes for gene: GLTP were set to Ichthyosis, MONDO:0019269; Epidermal differentiation disorder\nReview for gene: GLTP was set to GREEN\nAdded comment: PMID 41642656 reports 6 individuals from 5 unrelated families with rare biallelic loss‑of‑function GLTP variants (c.58_62del, c.98delT, c.162+2T>C). Individuals presented with non-syndromic epidermal differentiation disorder (generalized scaling, hyperkeratosis, and pruritus from birth, without extra‑dermal anomalies). GLTP encodes a glycolipid transfer protein that mediates inter‑membrane transport of glucosylceramide. The variants segregated with disease. Functional studies (CRISPR mouse knockout, keratinocyte knockdown, and rescue by eliglustat) demonstrate loss of GLTP expression and disrupted GlcCer trafficking, supporting a loss‑of‑function disease mechanism. \nSources: Literature",
"entity_name": "GLTP",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:07:43.530312+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.708",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Added reviews for gene KDM5B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T12:06:59.973614+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.247",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Added reviews for gene KDM5B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T12:04:16.976862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4581",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37231097; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:02:39.918053+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.149",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CD99L2 as ready",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T12:02:39.896474+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.149",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cd99l2 has been classified as Green List (High Evidence).",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:58:26.172709+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.195",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CD99L2 as ready",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:58:26.165506+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.195",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cd99l2 has been classified as Green List (High Evidence).",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:56:52.780030+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.149",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CD99L2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T11:56:52.614020+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.149",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CD99L2 was added\ngene: CD99L2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CD99L2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CD99L2 were set to 41690933\nPhenotypes for gene: CD99L2 were set to Neurodevelopmental disorder, MONDO:0700092; CD99L2-related",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:56:36.420150+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.195",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CD99L2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-19T11:56:36.206438+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.195",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CD99L2 was added\ngene: CD99L2 was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CD99L2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CD99L2 were set to 41690933\nPhenotypes for gene: CD99L2 were set to Neurodevelopmental disorder, MONDO:0700092; CD99L2-related",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:55:00.151740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4581",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: CD99L2 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092; CD99L2-related",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:54:00.752333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4580",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: CD99L2 as ready",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:54:00.745339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4580",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cd99l2 has been classified as Green List (High Evidence).",
"entity_name": "CD99L2",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:52.232636+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.707",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDS5A as Amber List (moderate evidence)",
"entity_name": "PDS5A",
"entity_type": "gene"
},
{
"created": "2026-03-19T11:53:52.222136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.707",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pds5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDS5A",
"entity_type": "gene"
}
]
}