HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=68",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=66",
"results": [
{
"created": "2026-01-04T21:24:46.300564+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJB1 was added\ngene: GJB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GJB1 were set to 31842800\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Reversible posterior leukoencephalopathy",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:24:19.184298+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.350",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GJA1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:24:19.071306+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.350",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GJA1 were set to 31023660\nPhenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:23:38.177442+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.349",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GCDH from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:23:38.064947+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GCDH was added\ngene: GCDH was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:22:45.218428+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.348",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GBE1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:22:44.993201+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.348",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form, 263570",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:21:25.933895+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.347",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GAN from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:21:25.815152+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.347",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GAN was added\ngene: GAN was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to Giant axonal neuropathy-1, MIM#256850",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:20:39.478636+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.346",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CYP27A1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:20:39.350688+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.346",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:19:58.389112+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.345",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CTSA from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:19:58.275084+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.345",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTSA was added\ngene: CTSA was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTSA were set to 31177426\nPhenotypes for gene: CTSA were set to Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:19:08.195170+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CST3 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:19:08.081567+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.344",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CST3 was added\ngene: CST3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CST3 were set to 38489591\nPhenotypes for gene: CST3 were set to Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:18:02.142860+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.343",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CSF1R from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:18:01.582863+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.343",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSF1R was added\ngene: CSF1R was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids, 221820",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:16:53.695661+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.342",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene COL4A2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:16:53.577305+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.342",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A2 were set to 30413629; 27624120; 24390199\nPhenotypes for gene: COL4A2 were set to Brain small vessel disease 2, 614483",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:15:23.449798+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene COL4A1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:15:23.341325+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL4A1 was added\ngene: COL4A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:14:51.496642+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene C1R from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:14:51.368592+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C1R was added\ngene: C1R was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other,Literature\nMode of inheritance for gene: C1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C1R were set to 8958339; 30535813\nPhenotypes for gene: C1R were set to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Leukodystrophy - adult onset\nPenetrance for gene: C1R were set to unknown\nMode of pathogenicity for gene: C1R was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:13:35.919046+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP7B from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:13:35.796531+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7B was added\ngene: ATP7B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP7B were set to 16966556; 12020274\nPhenotypes for gene: ATP7B were set to Wilson disease, 277900",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:13:01.191982+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.338",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene APP from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:13:00.981237+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.338",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: APP was added\ngene: APP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APP were set to 36845656\nPhenotypes for gene: APP were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:12:17.225622+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.337",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ANXA11 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:12:17.113007+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANXA11 was added\ngene: ANXA11 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert Review\nfounder tags were added to gene: ANXA11.\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 34048612\nPhenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:11:18.393027+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.336",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene AARS2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:11:18.280050+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.336",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AARS2 was added\ngene: AARS2 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, 615889",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:06:47.663278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3961",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:06:47.119281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3961",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637",
"entity_name": "ZIC2_HPE5_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T21:06:34.946445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.543",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:06:34.609698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.543",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637",
"entity_name": "ZIC2_HPE5_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T21:05:51.924038+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:05:51.727380+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637",
"entity_name": "ZIC2_HPE5_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T21:05:16.502089+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.503",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:05:16.031459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.503",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637",
"entity_name": "ZIC2_HPE5_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T21:05:11.613919+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.301",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:05:11.544091+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ZIC2_HPE5_GCN was added\nSTR: ZIC2_HPE5_GCN was added to Clefting disorders. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: ZIC2_HPE5_GCN.\nMode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808\nPhenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637",
"entity_name": "ZIC2_HPE5_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T21:00:26.658806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3960",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR XYLT1_DBQD2_GGC from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:00:25.586133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3960",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: XYLT1_DBQD2_GGC was added\nSTR: XYLT1_DBQD2_GGC was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: XYLT1_DBQD2_GGC.\nMode of inheritance for STR: XYLT1_DBQD2_GGC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: XYLT1_DBQD2_GGC were set to 30554721\nPhenotypes for STR: XYLT1_DBQD2_GGC were set to Desbuquois dysplasia 2 MIM#615777",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2026-01-04T20:59:24.772992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3959",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:59:24.211906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3959",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: VWA1_HMNMYO_GCGCGGAGCG was added\nSTR: VWA1_HMNMYO_GCGCGGAGCG was added to Mendeliome. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: VWA1_HMNMYO_GCGCGGAGCG.\nMode of inheritance for STR: VWA1_HMNMYO_GCGCGGAGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: VWA1_HMNMYO_GCGCGGAGCG were set to 33559681; 33459760\nPhenotypes for STR: VWA1_HMNMYO_GCGCGGAGCG were set to Neuropathy, hereditary motor, with myopathic features\tMIM#619216",
"entity_name": "VWA1_HMNMYO_GCGCGGAGCG",
"entity_type": "str"
},
{
"created": "2026-01-04T20:55:44.463228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3958",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR TCF4_FECD3_CTG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:55:43.382711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3958",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TCF4_FECD3_CTG was added\nSTR: TCF4_FECD3_CTG was added to Mendeliome. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: TCF4_FECD3_CTG.\nMode of inheritance for STR: TCF4_FECD3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TCF4_FECD3_CTG were set to 25722209; 24255041\nPhenotypes for STR: TCF4_FECD3_CTG were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267",
"entity_name": "TCF4_FECD3_CTG",
"entity_type": "str"
},
{
"created": "2026-01-04T20:54:51.372286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3957",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR TBX1_TOF_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:54:50.800771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3957",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TBX1_TOF_GCN was added\nSTR: TBX1_TOF_GCN was added to Mendeliome. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: TBX1_TOF_GCN.\nMode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TBX1_TOF_GCN were set to 19948535; 11748311\nPhenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500",
"entity_name": "TBX1_TOF_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T20:54:38.371656+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.517",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR TBX1_TOF_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:54:38.230141+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.517",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TBX1_TOF_GCN was added\nSTR: TBX1_TOF_GCN was added to Congenital Heart Defect. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: TBX1_TOF_GCN.\nMode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TBX1_TOF_GCN were set to 19948535; 11748311\nPhenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500",
"entity_name": "TBX1_TOF_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T20:51:01.189710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3956",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR TAF1_XDP_CCCTCT from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:50:59.985131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3956",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TAF1_XDP_CCCTCT was added\nSTR: TAF1_XDP_CCCTCT was added to Mendeliome. Sources: Expert Review Green,Expert list\nfounder, adult-onset tags were added to STR: TAF1_XDP_CCCTCT.\nMode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810\nPhenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250",
"entity_name": "TAF1_XDP_CCCTCT",
"entity_type": "str"
},
{
"created": "2026-01-04T20:48:55.791215+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR SOX3_PHPX_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:48:55.719996+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SOX3_PHPX_GCN was added\nSTR: SOX3_PHPX_GCN was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: SOX3_PHPX_GCN.\nMode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509\nPhenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000",
"entity_name": "SOX3_PHPX_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T20:48:55.494630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3955",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR SOX3_PHPX_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:48:54.942585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3955",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SOX3_PHPX_GCN was added\nSTR: SOX3_PHPX_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: SOX3_PHPX_GCN.\nMode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509\nPhenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000",
"entity_name": "SOX3_PHPX_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T20:48:42.797095+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR SOX3_PHPX_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T20:48:42.736466+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SOX3_PHPX_GCN was added\nSTR: SOX3_PHPX_GCN was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: SOX3_PHPX_GCN.\nMode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509\nPhenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000",
"entity_name": "SOX3_PHPX_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:45:14.823564+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:45:14.735862+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PRDM12_HSAN8_GCC was added\nSTR: PRDM12_HSAN8_GCC was added to Pain syndromes. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.\nMode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: PRDM12_HSAN8_GCC were set to 26005867\nPhenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488",
"entity_name": "PRDM12_HSAN8_GCC",
"entity_type": "str"
},
{
"created": "2026-01-04T18:45:04.741404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3954",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:45:03.604277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3954",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PRDM12_HSAN8_GCC was added\nSTR: PRDM12_HSAN8_GCC was added to Mendeliome. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.\nMode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: PRDM12_HSAN8_GCC were set to 26005867\nPhenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488",
"entity_name": "PRDM12_HSAN8_GCC",
"entity_type": "str"
},
{
"created": "2026-01-04T18:43:21.085311+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:43:20.891613+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880",
"entity_name": "PHOX2B_CCHS_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:42:43.883989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3953",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:42:42.827884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3953",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880",
"entity_name": "PHOX2B_CCHS_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:42:30.324812+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:42:30.145145+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Hirschsprung disease. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880",
"entity_name": "PHOX2B_CCHS_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:41:54.095039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.502",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:41:50.904727+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.502",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880",
"entity_name": "PHOX2B_CCHS_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:41:47.761564+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:41:47.627948+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PHOX2B_CCHS_GCN was added\nSTR: PHOX2B_CCHS_GCN was added to Central Hypoventilation. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.\nMode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833\nPhenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880",
"entity_name": "PHOX2B_CCHS_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:38:45.014501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3952",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PABPN1_OPMD_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:38:43.982675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3952",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PABPN1_OPMD_GCN was added\nSTR: PABPN1_OPMD_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: PABPN1_OPMD_GCN.\nMode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305\nPhenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:37:27.369407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3951",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR NUTM2B-AS1_OPDM_CCG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:37:26.815610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3951",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NUTM2B-AS1_OPDM_CCG was added\nSTR: NUTM2B-AS1_OPDM_CCG was added to Mendeliome. Sources: Expert Review Green,Literature\nadult-onset tags were added to STR: NUTM2B-AS1_OPDM_CCG.\nMode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380\nPhenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637",
"entity_name": "NUTM2B-AS1_OPDM_CCG",
"entity_type": "str"
},
{
"created": "2026-01-04T18:35:49.385986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3950",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR LRP12_OPDM1_CGG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:35:48.830881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3950",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: LRP12_OPDM1_CGG was added\nSTR: LRP12_OPDM1_CGG was added to Mendeliome. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: LRP12_OPDM1_CGG.\nMode of inheritance for STR: LRP12_OPDM1_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: LRP12_OPDM1_CGG were set to 31332380; 34047774; 37339631\nPhenotypes for STR: LRP12_OPDM1_CGG were set to Oculopharyngodistal myopathy 1 MIM#164310; Amyotrophic lateral sclerosis MONDO:0004976",
"entity_name": "LRP12_OPDM1_CGG",
"entity_type": "str"
},
{
"created": "2026-01-04T18:32:01.105898+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.372",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:32:00.897290+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.372",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000",
"entity_name": "HOXD13_SPD1_GCG",
"entity_type": "str"
},
{
"created": "2026-01-04T18:31:21.576279+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.299",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:31:21.422761+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Polydactyly. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000",
"entity_name": "HOXD13_SPD1_GCG",
"entity_type": "str"
},
{
"created": "2026-01-04T18:30:22.484381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3949",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:30:20.080873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3949",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000",
"entity_name": "HOXD13_SPD1_GCG",
"entity_type": "str"
},
{
"created": "2026-01-04T18:29:50.689796+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:29:50.486726+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Hand and foot malformations. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000",
"entity_name": "HOXD13_SPD1_GCG",
"entity_type": "str"
},
{
"created": "2026-01-04T18:29:48.481614+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.371",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:29:48.211709+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:29:10.868427+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:29:10.687304+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Radial Ray Abnormalities. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:28:31.424931+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:28:31.171683+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Polydactyly. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:27:52.314700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3948",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:27:51.687466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3948",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:27:40.829747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.501",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:27:40.614095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.501",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Fetal anomalies. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:27:34.468100+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:27:34.328528+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Differences of Sex Development. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:26:57.368631+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
}
]
}