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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1991",
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"results": [
{
"created": "2020-01-13T15:06:46.851104+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Hereditary Neuropathy - complex_RMH. 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 Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.769704+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AFG3L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AFG3L2 were set to Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.688912+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP2U1 was added\ngene: CYP2U1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP2U1 were set to Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.610333+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.532119+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DDHD1 was added\ngene: DDHD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD1 were set to Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.453019+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: B4GALNT1 was added\ngene: B4GALNT1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.366829+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to HMSN; Spastic paraplegia 15",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.283418+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJC3 was added\ngene: DNAJC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC3 were set to 25466870\nPhenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.203599+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCYL1 was added\ngene: SCYL1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.121562+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDYN was added\ngene: PDYN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PDYN were set to Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:46.041931+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX10 was added\ngene: PEX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX10 were set to 27230853; 20695019\nPhenotypes for gene: PEX10 were set to Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:45.960606+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DARS2 was added\ngene: DARS2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DARS2 were set to Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:45.882157+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTPA was added\ngene: TTPA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTPA were set to Ataxia with vitamin E deficiency; Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:45.801380+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTTP were set to Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:45.721886+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:45.383514+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRIP4 was added\ngene: TRIP4 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:45.303364+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive; HSAN/SFN",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:45.223168+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TDP1 was added\ngene: TDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDP1 were set to 31182267\nPhenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.822022+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBM7 was added\ngene: RBM7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBM7 were set to 27193168\nPhenotypes for gene: RBM7 were set to SMA-like phenotype; dHMN/dSMA",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.743946+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.662801+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX12 was added\ngene: PEX12 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX12 were set to 24627108\nPhenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; HMSN",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.578934+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NIPA1 was added\ngene: NIPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NIPA1 were set to 21419568\nPhenotypes for gene: NIPA1 were set to Spastic paraplegia 6",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.407241+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFRD1 was added\ngene: IFRD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IFRD1 were set to 29362493; 19409521\nPhenotypes for gene: IFRD1 were set to autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.324323+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HMBS were set to Acute intermittent porphyria; dHMN/dSMA",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.216162+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.132238+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:44.053600+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GSN was added\ngene: GSN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GSN were set to Amyloidosis, Finnish type; HMSN",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.974379+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Galactosylceramide beta-galactosidase deficiency; HMSN",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.814521+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOSC8 was added\ngene: EXOSC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC8 were set to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.737220+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOSC3 was added\ngene: EXOSC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b; dHMN/dSMA",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.574589+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Hereditary Neuropathy - complex_RMH. 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 HMSN; Cholestanol storage disease",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.497682+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COX10 was added\ngene: COX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX10 were set to Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.414939+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLP1 was added\ngene: CLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10; dHMN/dSMA",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.297047+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TWNK were set to HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.190551+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASCC1 was added\ngene: ASCC1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:43.085455+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASAH1 was added\ngene: ASAH1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy; dHMN/dSMA",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.980853+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL6IP1 was added\ngene: ARL6IP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL6IP1 were set to HSAN/SFN; Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.874810+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCA1 was added\ngene: ABCA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA1 were set to HMSN; Tangier disease",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.727952+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AAAS was added\ngene: AAAS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to HMSN; Glucocorticoid deficiency with achalasia",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.571549+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; HMSN; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.487247+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPAST was added\ngene: SPAST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant; Spasticity; Hereditary Neuropathies",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.411117+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX10 was added\ngene: SOX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX10 were set to PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.249579+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC52A3 was added\ngene: SLC52A3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.174214+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:42.008783+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPLA6 were set to progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.933699+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.858534+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.785258+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDK3 was added\ngene: PDK3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; HMSN",
"entity_name": "PDK3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.712479+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency; HMSN",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.638555+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NTRK1 was added\ngene: NTRK1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.485947+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH14 was added\ngene: MYH14 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.411367+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCM3AP was added\ngene: MCM3AP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.252488+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.099771+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KARS were set to HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:41.025090+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015; HMSN",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.949315+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJB3 was added\ngene: GJB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: GJB3 was set to \nPhenotypes for gene: GJB3 were set to HMSN; erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.873179+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GBA2 was added\ngene: GBA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.801465+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM126A was added\ngene: FAM126A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM126A were set to HMSN; Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.728613+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DCAF8 was added\ngene: DCAF8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100; HMSN",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.655978+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTDP1 was added\ngene: CTDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.583620+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNTNAP1 was added\ngene: CNTNAP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.511508+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCT5 was added\ngene: CCT5 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HMSN",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.438647+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BAG3 was added\ngene: BAG3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.365120+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.291946+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABHD12 was added\ngene: ABHD12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD12 were set to Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:40.138694+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XK was added\ngene: XK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:39.740737+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); HMSN",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:39.669657+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB3 was added\ngene: TUBB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A; HMSN",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:39.597738+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TTR were set to Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:38.957169+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC12A6 was added\ngene: SLC12A6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A6 were set to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:38.716970+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SETX was added\ngene: SETX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SETX were set to dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:38.231063+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type; HMSN",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:37.745957+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRNP was added\ngene: PRNP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRNP were set to Prion diseases",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:37.588029+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:37.271407+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PHYH was added\ngene: PHYH was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease; Phytanic acid storage disease",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:37.198038+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX7 was added\ngene: PEX7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Refsum disease; Phytanic acid storage disease",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:37.124255+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA1 was added\ngene: OPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:35.146883+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: GLA were set to Cardiomyopathy; HSAN/SFN; Fabry disease",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:34.815339+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GAN was added\ngene: GAN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to HMSN; Giant axonal neuropathy-1",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:33.640720+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COA7 was added\ngene: COA7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:33.494881+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C12orf65 was added\ngene: C12orf65 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, MIM#615035; HMSN",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:32.882894+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AIFM1 was added\ngene: AIFM1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; HMSN",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-01-13T15:06:32.758519+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Hereditary Neuropathy - complex_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-13T11:12:13.849366+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric_RMH",
"panel_id": 317,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: KLC2.",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-01-12T18:24:56.937031+11:00",
"panel_name": "Immunological disorders_SuperPanel_VCGS",
"panel_id": 239,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Combined immunodeficiency_MelbourneGenomics_VCGS; Disorders of immune dysregulation_MelbourneGenomics_VCGS; Predominantly antibody deficiency_MelbourneGenomics_VCGS; Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS; Susceptibility to viral infections_MelbourneGenomics_VCGS; Neutrophil defects_MelbourneGenomics_VCGS; Complement deficiencies_MelbourneGenomics_VCGS; Phagocyte defects_MelbourneGenomics_VCGS; Common Variable Immunodeficiency_MelbourneGenomics_VCGS; Defects of innate immunity_MelbourneGenomics_VCGS; Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS; Susceptibility to fungal infections_MelbourneGenomics_VCGS; Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_VCGS; Mendelian susceptibility to Immune Disorders_MelbourneGenomics_VCGS; Hyper-IgE syndrome_MelbourneGenomics_VCGS; Hereditary angioedema_MelbourneGenomics_VCGS; Inflammatory bowel disease_VCGS",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-12T18:20:57.376413+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK1 as ready",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-01-12T18:20:57.364854+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk1 has been classified as Green List (High Evidence).",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-01-12T18:20:28.617214+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPK1 as Green List (high evidence)",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-01-12T18:20:28.604998+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk1 has been classified as Green List (High Evidence).",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-01-12T18:19:58.091723+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPK1 was added\ngene: RIPK1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPK1 were set to 30026316\nPhenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108\nReview for gene: RIPK1 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Literature",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:24:50.014752+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASGRP1 as ready",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:24:49.992272+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp1 has been classified as Green List (High Evidence).",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:22:54.103565+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASGRP1 as Green List (high evidence)",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:22:54.091550+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp1 has been classified as Green List (High Evidence).",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:13:31.021656+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASGRP1 was added\ngene: RASGRP1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RASGRP1 were set to 29155103; 28822832; 17675473; 27776107; 29282224\nPhenotypes for gene: RASGRP1 were set to Immunodeficiency 64, MIM#618534\nReview for gene: RASGRP1 was set to GREEN\nAdded comment: At least four families reported; mouse model. \nSources: Expert list",
"entity_name": "RASGRP1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:05:46.071644+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS1 as ready",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:05:46.059270+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:05:41.163211+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAS1 as Green List (high evidence)",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:05:41.151878+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas1 has been classified as Green List (High Evidence).",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2020-01-12T13:05:11.089670+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAS1 was added\ngene: OAS1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OAS1 were set to 29455859\nPhenotypes for gene: OAS1 were set to infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia\nReview for gene: OAS1 was set to GREEN\nAdded comment: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent. \nSources: Literature",
"entity_name": "OAS1",
"entity_type": "gene"
}
]
}