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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=198",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=196",
"results": [
{
"created": "2025-07-25T10:49:48.796015+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhb has been classified as Green List (High Evidence).",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:44.214098+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LHB as Green List (high evidence)",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:44.206959+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhb has been classified as Green List (High Evidence).",
"entity_name": "LHB",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:26.883808+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNRH1 as ready",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:26.876719+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrh1 has been classified as Green List (High Evidence).",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:22.982212+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNRH1 as Green List (high evidence)",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:22.975601+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrh1 has been classified as Green List (High Evidence).",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:01.829233+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP13 as ready",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:49:01.822173+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Green List (High Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:48:55.757586+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Green List (high evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:48:55.744712+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Green List (High Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:48:18.447659+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:48:18.437045+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttn has been classified as Red List (Low Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:48:09.955034+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTN as Red List (low evidence)",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:48:09.948458+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttn has been classified as Red List (Low Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:48:01.937244+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contracture syndrome, MONDO:0017436; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:47:21.967752+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR11 as ready",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:47:21.957362+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:47:18.844799+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR11 as Green List (high evidence)",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:47:18.829452+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:46:50.803583+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WEE2 as ready",
"entity_name": "WEE2",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:46:50.793897+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wee2 has been classified as Green List (High Evidence).",
"entity_name": "WEE2",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:46:41.011879+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WEE2 as Green List (high evidence)",
"entity_name": "WEE2",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:46:41.005248+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wee2 has been classified as Green List (High Evidence).",
"entity_name": "WEE2",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:18:32.647817+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: 18 individuals from 17 families reported with de novo heterozygous variants in MAPK8IP3 gene (recurrence in one family due to gonadal mosaicism). Variant types were nonsense, frameshift, and missense. Expression of the missense variants in zebrafish resulted in axonal abnormalities, suggesting defects in neural development.\r\n\r\nClinical features included: development delay, speech delay/minimal speech, intellectual disability (mild-severe), hypotonia, spasticity, ataxia. Less common features included: cortical visual impairment, scoliosis, short stature, microcephaly, dysmorphism. Brain imaging showed variable abnormalities: perisylvian polymicrogyria, cerebral atrophy, cerebellar atrophy, abnormal corpus callosum, white matter volume loss, and hypomyelination.; to: 18 individuals from 17 families reported with de novo heterozygous variants in MAPK8IP3 gene (recurrence in one family due to gonadal mosaicism). Variant types were nonsense, frameshift, and missense. Expression of the missense variants in zebrafish resulted in axonal abnormalities, suggesting defects in neural development.\r\n\r\nClinical features included: development delay, speech delay/minimal speech, intellectual disability (mild-severe), hypotonia, spasticity, ataxia. Less common features included: cortical visual impairment, scoliosis, short stature, microcephaly, dysmorphism. Brain imaging showed variable abnormalities: perisylvian polymicrogyria, cerebral atrophy, cerebellar atrophy, abnormal corpus callosum, white matter volume loss, and hypomyelination.",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:17:39.298705+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.82",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:17:39.287402+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.82",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:17:20.482341+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.81",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to PMID: 30945334, 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA MONDO:0032755\nReview for gene: MAPK8IP3 was set to GREEN\nAdded comment: 18 individuals from 17 families reported with de novo heterozygous variants in MAPK8IP3 gene (recurrence in one family due to gonadal mosaicism). Variant types were nonsense, frameshift, and missense. Expression of the missense variants in zebrafish resulted in axonal abnormalities, suggesting defects in neural development.\r\n\r\nClinical features included: development delay, speech delay/minimal speech, intellectual disability (mild-severe), hypotonia, spasticity, ataxia. Less common features included: cortical visual impairment, scoliosis, short stature, microcephaly, dysmorphism. Brain imaging showed variable abnormalities: perisylvian polymicrogyria, cerebral atrophy, cerebellar atrophy, abnormal corpus callosum, white matter volume loss, and hypomyelination. \nSources: Literature",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:17:18.255862+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:17:18.243574+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2025-07-25T10:16:57.471838+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.389",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30945334, 30612693; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA MONDO:0032755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2025-07-22T15:28:18.945617+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.11",
"user_name": "Leah Frajman",
"item_type": "entity",
"text": "reviewed gene: DAAM2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36972684; Phenotypes: Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:56:40.392413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Cardiomyopathy, familial hypertrophic, 31, MIM# 621270",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:56:24.467599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM63: Changed phenotypes: Cardiomyopathy, familial hypertrophic, 31, MIM# 621270",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:56:10.250645+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Cardiomyopathy, familial hypertrophic, 31, MIM# 621270",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:55:43.243778+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, familial hypertrophic, 31, MIM# 621270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:55:06.625462+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE1B as ready",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:55:06.619112+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:55:02.778363+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE1B as Green List (high evidence)",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:55:02.768009+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:54:50.395244+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE1B was added\ngene: PDE1B was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE1B were set to 40492975\nPhenotypes for gene: PDE1B were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related\nReview for gene: PDE1B was set to GREEN\nAdded comment: PMID:40492975 reported seven individuals from five unrelated families identified with biallelic PDE1B variants. Three truncating (p.Gln45Ter, p.Gln86Ter, p.Ser298Alafs*6) and three splicing variants (c.594 + 2 T>G, c.735 + 5G>A, c.837-1G>C) were identified from these patients in total. They presented with an early-onset movement disorder characterised by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with motor and speech delay, and intellectual disability. Functional evidence is also available for these variants. \nSources: Literature",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:53:46.997683+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE1B as ready",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:53:46.988130+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:53:43.079085+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE1B as Green List (high evidence)",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:53:43.072532+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:53:30.092150+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE1B was added\ngene: PDE1B was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE1B were set to 40492975\nPhenotypes for gene: PDE1B were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related\nReview for gene: PDE1B was set to GREEN\nAdded comment: PMID:40492975 reported seven individuals from five unrelated families identified with biallelic PDE1B variants. Three truncating (p.Gln45Ter, p.Gln86Ter, p.Ser298Alafs*6) and three splicing variants (c.594 + 2 T>G, c.735 + 5G>A, c.837-1G>C) were identified from these patients in total. They presented with an early-onset movement disorder characterised by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with motor and speech delay, and intellectual disability. Functional evidence is also available for these variants. \nSources: Literature",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:52:28.977944+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE1B as ready",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:52:28.969222+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:52:24.744958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE1B as Green List (high evidence)",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:52:24.738799+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:52:01.713393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE1B was added\ngene: PDE1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE1B were set to 40492975\nPhenotypes for gene: PDE1B were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related\nReview for gene: PDE1B was set to GREEN\nAdded comment: PMID:40492975 reported seven individuals from five unrelated families identified with biallelic PDE1B variants. Three truncating (p.Gln45Ter, p.Gln86Ter, p.Ser298Alafs*6) and three splicing variants (c.594 + 2 T>G, c.735 + 5G>A, c.837-1G>C) were identified from these patients in total. They presented with an early-onset movement disorder characterised by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with motor and speech delay, and intellectual disability. Functional evidence is also available for these variants. \nSources: Literature",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:50:32.849302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE1B as ready",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:50:32.839239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:50:26.523745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE1B were changed from movement disorder, MONDO:0005395 to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:50:08.401550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE1B as Green List (high evidence)",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:50:08.391734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde1b has been classified as Green List (High Evidence).",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-20T16:49:54.296340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-19T07:53:39.188853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2729",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: PDE1B was added\ngene: PDE1B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE1B were set to 40492975\nPhenotypes for gene: PDE1B were set to movement disorder, MONDO:0005395\nReview for gene: PDE1B was set to GREEN\nAdded comment: PMID:40492975 reported seven individuals from five unrelated families identified with biallelic PDE1B variants. Three truncating (p.Gln45Ter, p.Gln86Ter, p.Ser298Alafs*6) and three splicing variants (c.594 + 2 T>G, c.735 + 5G>A, c.837-1G>C) were identified from these patients in total.\r\n\r\nThey presented with an early-onset movement disorder characterised by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with motor and speech delay, and intellectual disability. Functional evidence is also available for these variants. \nSources: Literature",
"entity_name": "PDE1B",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:07:29.486925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATG4D were changed from Neurodevelopmental disorder, MONDO:0700092, ATG4D-related to Neurodevelopmental disorder, MONDO:0700092, ATG4D-related; Spermatogenic failure 101, MIM# 621269",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:07:08.596550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATG4D were set to PMID: 36765070",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:06:38.615828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATG4D: Added comment: PMID 33988247: 4 individuals from 3 unrelated families, all variants are missense, limited functional data.; Changed publications: 33988247; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ATG4D-related, Spermatogenic failure 101, MIM# 621269",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:06:04.480538+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATG4D were set to ",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:05:53.065994+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATG4D: Changed publications: 33988247; Changed phenotypes: Spermatogenic failure 101, MIM# 621269",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:04:38.724594+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATG4D as ready",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:04:38.712435+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atg4d has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:04:33.298915+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATG4D as Amber List (moderate evidence)",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:04:33.291182+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atg4d has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T23:04:22.410382+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATG4D was added\ngene: ATG4D was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATG4D were set to Spermatogenic failure 101, MIM#\t621269\nReview for gene: ATG4D was set to AMBER\nAdded comment: 4 individuals from 3 unrelated families, all variants are missense, limited functional data. \nSources: Literature",
"entity_name": "ATG4D",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:35:38.685322+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SECISBP2 as ready",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:35:38.678895+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Green List (High Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:35:32.538968+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SECISBP2 as Green List (high evidence)",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:35:32.532704+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Green List (High Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:35:09.853496+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SECISBP2 was added\ngene: SECISBP2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SECISBP2 were set to 38042913\nPhenotypes for gene: SECISBP2 were set to Thyroid hormone metabolism, abnormal, 1\tMIM#609698; Selenoprotein deficiency\nReview for gene: SECISBP2 was set to GREEN\nAdded comment: PMID:38042913 reported the identification of four unrelated individuals with biallelic SECISBP2 variants and showed early-onset, progressive, aneurysmal dilatation of the ascending aorta due to cystic medial necrosis. In addition, zebrafish and mice with global or vascular smooth muscle cell (VSMC)-targeted disruption of Secisbp2 respectively showed similar aortopathy. Additional features present in probands, condition is more appropriately termed 'selenoprotein deficiency' rather than focusing on the thyroid disease. \nSources: Literature",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:27:31.178727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMEPA1 as Green List (high evidence)",
"entity_name": "PMEPA1",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:27:31.171726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmepa1 has been classified as Green List (High Evidence).",
"entity_name": "PMEPA1",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:27:13.357001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMEPA1: Changed rating: GREEN",
"entity_name": "PMEPA1",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:26:52.063950+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PMEPA1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "PMEPA1",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:26:25.540862+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMEPA1 as Green List (high evidence)",
"entity_name": "PMEPA1",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:26:25.534290+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmepa1 has been classified as Green List (High Evidence).",
"entity_name": "PMEPA1",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:26:02.900219+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PMEPA1: Changed rating: GREEN",
"entity_name": "PMEPA1",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:21:06.145775+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPH as ready",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:21:06.139654+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asph has been classified as Green List (High Evidence).",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:20:58.035964+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASPH as Green List (high evidence)",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:20:58.028831+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asph has been classified as Green List (High Evidence).",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2025-07-17T18:20:35.339574+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPH was added\ngene: ASPH was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPH were set to 35918038\nPhenotypes for gene: ASPH were set to Traboulsi syndrome, MIM #601552\nReview for gene: ASPH was set to GREEN\nAdded comment: PMID: 35918038 reports 7 individuals from 6 families (patients 2 and 3 related) with homozygous or compound het variants in ASPH. All presented initially with ocular phenotypes and had characteristic facial features seen in Traboulsi syndrome, but 5 individuals from 4 families were additionally found to have aortic dilatation as part of their clinical characteristics. \nSources: Expert list",
"entity_name": "ASPH",
"entity_type": "gene"
},
{
"created": "2025-07-17T13:59:18.662322+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: CASQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38982518, 29039140; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates 616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2025-07-17T11:42:23.588344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2726",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2025-07-17T02:00:08.489076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Combined immunodeficiency, MONDO:0015131, ITPR3-related to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Combined immunodeficiency, MONDO:0015131, ITPR3-related; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:59:41.421325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR3 were set to 32949214; 24627108; 36302985",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:59:13.684540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITPR3: Added comment: PMIDs 36302985, 39270020, 39560673: More than 10 individuals reported with heterozygous variant and combined immunodeficiency +/- ectodermal features and neuropathy.; Changed publications: 32949214, 24627108, 36302985, 36302985, 39270020, 39560673; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111, Combined immunodeficiency, MONDO:0015131, ITPR3-related, Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:57:48.661573+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR3 were changed from Combined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:57:27.467413+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR3 were set to PMID: 36302985",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:56:33.340719+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPR3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:56:06.317244+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITPR3: Added comment: More than 10 individuals reported with heterozygous variant and combined immunodeficiency +/- ectodermal features and neuropathy.; Changed publications: 36302985, 39270020, 39560673; Changed phenotypes: Combined immunodeficiency, MONDO:0015131, ITPR3-related, Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:53:02.657797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP6 were changed from Tooth agenesis, selective, 7, MIM# 616724 to Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:52:45.459851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRP6 were set to ",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:52:22.703295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 34896607; Phenotypes: Exudative vitreoretinopathy 8, MIM# 621268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:51:31.014587+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP6 as ready",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:51:31.004766+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:50:26.291623+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRP6 as Amber List (moderate evidence)",
"entity_name": "LRP6",
"entity_type": "gene"
}
]
}