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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=30",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=28",
"results": [
{
"created": "2026-02-20T17:07:20.978764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: INSL3: Added comment: PMID 41369823 reports two unrelated Chinese Han individuals with homozygous frameshift INSL3 variants presenting with bilateral cryptorchidism, testicular atrophy, azoospermia and elevated FSH/LH. Functional assays (Western blot, immunofluorescence, Co‑IP) showed truncated proteins and loss of RXFP2 interaction; structural modelling predicted abnormal protein conformation; Changed publications: 12601553, 12970298, 11095425, 41369823",
"entity_name": "INSL3",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:59:58.488684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGSF10 were set to 27137492; 31042289; 40700020",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:59:43.796105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGSF10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:59:25.596755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGSF10: Added comment: PMID 31200363: two individuals from unrelated families with bi-allelic variants and hypogonadotropic hypogonadism.\r\nPMID 33208564: single individual with mono-allelic LoF variant and hypogonadotropic hypogonadism.\r\n\r\nStill a mixture of MOIs reported, little supportive data, some of the variants postulated to be associated with dominant disease have high pop frequencies.; Changed publications: 27137492, 31042289, 40700020, 31200363, 33208564",
"entity_name": "IGSF10",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:31:26.898152+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:31:26.890958+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:31:23.151955+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPG5 as Green List (high evidence)",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:31:23.141872+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:31:09.248554+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Dystonia and Chorea. Sources: Literature\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 41053928; 36410285; 40192014\nPhenotypes for gene: EPG5 were set to Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506\nReview for gene: EPG5 was set to GREEN\nAdded comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy. PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals. \nSources: Literature",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:29:58.723595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to 23222957; 26917586",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:29:18.820411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPG5: Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy. PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.; Changed publications: 23222957, 26917586, 41053928, 36410285, 40192014; Changed phenotypes: Vici syndrome, MIM# 242840, Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:28:34.897345+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:28:34.877496+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:28:31.409933+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from Disorders of autophagy; Vici syndrome MONDO:0009452 to Disorders of autophagy; Vici syndrome MONDO:0009452; Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:28:02.480779+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to 33674710; 34130600; 29884839",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:27:07.675076+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41053928, 36410285, 40192014; Phenotypes: Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:26:15.394823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from Vici syndrome, MIM# 242840 to Vici syndrome, MIM# 242840; Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:25:07.576809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to 23222957; 26917586",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T16:00:33.834382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPG5: Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy.\r\n\r\nPMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.; Changed publications: 23222957, 26917586, 41053928, 36410285, 40192014; Changed phenotypes: Vici syndrome, MIM# 242840, Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:42:07.781493+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.95",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPR were changed from Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related to Spermatogenic failure (MONDO:0004983), HNRNPR-related",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:41:57.271568+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.94",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: HNRNPR were set to 26795593; 31079900; 41618099",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:41:49.921530+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.93",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:41:43.104857+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.92",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: HNRNPR as Amber List (moderate evidence)",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:41:43.098063+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.92",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: hnrnpr has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:35:28.386269+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.91",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene HNRNPR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-20T14:35:28.271003+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.91",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: HNRNPR was added\ngene: HNRNPR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: HNRNPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HNRNPR were set to 26795593; 31079900; 41618099\nPhenotypes for gene: HNRNPR were set to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:35:02.016656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4348",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:34:42.992552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4347",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: HNRNPR were set to 26795593; 31079900",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:34:28.803517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4346",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPR were changed from Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#\t620073 to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T14:33:57.763725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4345",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: HNRNPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 41618099; Phenotypes: Spermatogenic failure (MONDO:0004983), HNRNPR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2026-02-20T13:59:57.693889+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.83",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Added reviews for gene SSR3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-20T13:57:58.199324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4345",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: SSR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32332102; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, SSR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SSR3",
"entity_type": "gene"
},
{
"created": "2026-02-20T07:05:00.222134+11:00",
"panel_name": "Progressive Neurological Conditions",
"panel_id": 3377,
"panel_version": "21.437",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Early-onset Parkinson disease; Brain Calcification; Genetic Epilepsy; Ataxia; Hereditary Neuropathy; Hereditary Spastic Paraplegia; Congenital Disorders of Glycosylation; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Miscellaneous Metabolic Disorders; Early-onset Dementia; Motor Neurone Disease; Rhabdomyolysis and Metabolic Myopathy; Lysosomal Storage Disorder; Mitochondrial disease; Fatty Acid Oxidation Defects; Cerebral vascular malformations; Neurotransmitter Defects; Brain Channelopathies; Glycogen Storage Diseases; Neurodegeneration with brain iron accumulation; Leukodystrophy; Dystonia and Chorea; Peroxisomal Disorders; Metal Metabolism Disorders; Pain syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-20T07:04:08.350664+11:00",
"panel_name": "Neuromuscular Superpanel",
"panel_id": 4092,
"panel_version": "4.368",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Ataxia; Hereditary Neuropathy; Hereditary Spastic Paraplegia; Muscular dystrophy and myopathy_Paediatric; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Motor Neurone Disease; Rhabdomyolysis and Metabolic Myopathy; Gastrointestinal neuromuscular disease; Congenital Myasthenia; Arthrogryposis; Skeletal Muscle Channelopathies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-19T16:41:29.766111+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.76",
"user_name": "Leah Frajman",
"item_type": "entity",
"text": "changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families have been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-19T16:00:21.685376+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.669",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425",
"entity_name": "NLGN3",
"entity_type": "gene"
},
{
"created": "2026-02-19T16:00:04.506706+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.246",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425",
"entity_name": "NLGN3",
"entity_type": "gene"
},
{
"created": "2026-02-19T15:53:42.090956+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.76",
"user_name": "Leah Frajman",
"item_type": "entity",
"text": "changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-19T15:53:07.490759+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.76",
"user_name": "Leah Frajman",
"item_type": "entity",
"text": "changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-19T15:52:57.357605+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.76",
"user_name": "Leah Frajman",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39253717, 30454721, 33917638; Phenotypes: Arrhythmogenic right ventricular dysplasia 10 (MIM#610193); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-19T14:59:20.747689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4345",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425",
"entity_name": "NLGN3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:45:17.052847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related",
"entity_name": "CCDC141",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:45:01.689795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC141 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCDC141",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:35:48.528991+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.424",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: SCN5A were changed from Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154 to Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154; SCN5A-related cardiac rhythm disorder MONDO:1010181",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:35:06.134346+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.6",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: SCN5A-related cardiac rhythm disorder MONDO:1010181; Mode of inheritance: None",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:34:27.590551+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:34:12.071892+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY3 as Green List (high evidence)",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:34:12.061803+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy3 has been classified as Green List (High Evidence).",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:34:00.609855+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADCY3: Added comment: PMID 39519366: reports a single consanguineous Pakistani family with a 4‑year‑old girl who presented with early‑onset severe obesity, hyperphagia, insulin resistance (acanthosis nigricans), and mild hepatomegaly. Exome‑panel sequencing identified a novel homozygous nonsense variant c.2520C>G (p.Thr840X). In vitro assays in 3T3‑L1 cells demonstrated markedly reduced CRE/SRE‑luciferase activity, lower cAMP production, increased lipid accumulation, and diminished lipolysis for the mutant protein, while structural modelling showed loss of the intracellular G‑protein‑binding segment.; Changed rating: GREEN; Changed publications: 11055432, 29311636, 29311637, 39519366",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:33:53.187763+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.6",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: SCN5A were changed from progressive familial heart block MONDO:0019490 to progressive familial heart block MONDO:0019490; SCN5A-related cardiac rhythm disorder MONDO:1010181",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:33:06.961720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:32:47.869360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY3 as Green List (high evidence)",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:32:47.846421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy3 has been classified as Green List (High Evidence).",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T13:32:30.687961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADCY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39519366; Phenotypes: {Obesity, susceptibility to, BMIQ19} MIM#617885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2026-02-19T12:21:03.599618+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.10",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region PITX2 upstream regulatory region from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-19T12:21:03.451866+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "1.10",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: PITX2 upstream regulatory region was added\nRegion: PITX2 upstream regulatory region was added to Glaucoma congenital. Sources: Literature\nSV/CNV tags were added to Region: PITX2 upstream regulatory region.\nMode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756\nPhenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187",
"entity_name": "PITX2 upstream regulatory region",
"entity_type": "region"
},
{
"created": "2026-02-19T12:20:02.879665+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.19",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region PITX2 upstream regulatory region from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-19T12:20:02.698435+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.19",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: PITX2 upstream regulatory region was added\nRegion: PITX2 upstream regulatory region was added to Eye Anterior Segment Abnormalities. Sources: Literature\nSV/CNV tags were added to Region: PITX2 upstream regulatory region.\nMode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756\nPhenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187",
"entity_name": "PITX2 upstream regulatory region",
"entity_type": "region"
},
{
"created": "2026-02-19T12:13:30.437736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4340",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: PITX2 upstream regulatory region was added\nRegion: PITX2 upstream regulatory region was added to Mendeliome. Sources: Literature\nSV/CNV tags were added to Region: PITX2 upstream regulatory region.\nMode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756\nPhenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187\nReview for Region: PITX2 upstream regulatory region was set to GREEN\nAdded comment: PITX2 encodes a homeodomain containing transcription factor. \r\n\r\nThere have been over 5 affected individuals across a number of publications with deletions in an agenic region approx 150kb upstream of PITX2 presenting with an Axenfeld Rieger phenotype. \r\nThere have also been reports of individuals with balanced translocations transecting the region on 4p with a similar phenotype. \r\n\r\nFunctional studies have interrogated this region identifying 11 conserved elements that are thought to represent enhancers. Zebrafish studies were performed by Volkmann et al with varying sized deletions in the region showing an effect on PITX2 gene expression. \r\nProtas et al used a zebrafish model modified by CRISPR/Cas9 to delete an orthologous region similar to that seen in an affected individual. This resulted in recapitulation of the phenotype. \r\n\r\nNote coordinates may not be precise (smaller deletions have been reported to cause disease). \nSources: Literature",
"entity_name": "PITX2 upstream regulatory region",
"entity_type": "region"
},
{
"created": "2026-02-19T11:01:51.462866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.533",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: FGD5 were changed from tetralogy of fallot MONDO:0008542 to Congenital heart disease - MONDO:0005453, FGD5-related",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T11:01:40.553444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.532",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: FGD5 were set to 32037394; 30232381",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T11:01:27.445823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.531",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: FGD5 as Amber List (moderate evidence)",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T11:01:27.435398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.531",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: fgd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T11:01:00.253966+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.528",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: FGD5 were changed from Congenital heart disease - MONDO:0005453, FGD5-related to Congenital heart disease - MONDO:0005453, FGD5-related",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T11:00:40.428171+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.527",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: FGD5 were changed from tetralogy of fallot MONDO:0008542 to Congenital heart disease - MONDO:0005453, FGD5-related",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T11:00:22.338994+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.527",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: FGD5 were set to 41574350; 41199744; 32037394; 30232381",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T11:00:04.859286+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.526",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: FGD5 were set to 32037394; 30232381",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:59:45.608530+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.526",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: FGD5 as Amber List (moderate evidence)",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:59:45.586935+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.526",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: fgd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:59:21.908274+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.530",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene FGD5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-19T10:58:51.043664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4339",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: FGD5 were changed from tetralogy of fallot MONDO:0008542 to Congenital heart disease - MONDO:0005453, FGD5-related",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:58:39.411812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4338",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: FGD5 were set to 32037394; 30232381",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:58:39.167791+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.529",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Copied gene FGD5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-19T10:58:38.777671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.529",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FGD5 was added\ngene: FGD5 was added to Fetal anomalies. Sources: Expert Review Red,Literature\nMode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGD5 were set to 32037394; 30232381\nPhenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:58:33.035733+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.525",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene FGD5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-19T10:58:12.610788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4337",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: FGD5 as Amber List (moderate evidence)",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:58:12.602148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4337",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: fgd5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T10:55:41.134365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4336",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: FGD5: Rating: AMBER; Mode of pathogenicity: None; Publications: 41574350, 41199744, 32037394, 30232381; Phenotypes: Congenital heart disease - MONDO:0005453, FGD5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGD5",
"entity_type": "gene"
},
{
"created": "2026-02-19T09:27:26.961412+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.668",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: FSCN1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 40874942; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FSCN1",
"entity_type": "gene"
},
{
"created": "2026-02-18T17:27:18.348316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4336",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: The well-know East Asian founder variant, p.(Arg4810Lys) (aka p.(Arg4859Lys)), has been reported in multiple homozygous individuals with moyamoya disease. In a Japanese cohort, homozygous individuals had a significantly earlier age at onset compared with heterozygotes (PMID: 22377813).\r\n\r\nThe evidence for AR as a MOI in association with other variants is not convincing (PMIDs: 30922903, 33960657).; to: The well-know East Asian founder variant, p.(Arg4810Lys) (aka p.(Arg4859Lys)), has been reported in multiple homozygous individuals with moyamoya disease. In a Japanese cohort, homozygous individuals had a significantly earlier age at onset compared with heterozygotes (PMID: 22377813).\r\n\r\nThe evidence for AR as a MOI in association with other variants is not convincing (PMIDs: 30922903, 33960657).\r\n\r\n*Specific MONDO for this gene is Moyamoya disease 2 (MONDO:0011784).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-02-18T17:23:05.553292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4336",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: 22377813, 30922903, 33960657; Phenotypes: Moyamoya disease 2, susceptibility to MIM#607151; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:12:24.578752+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.74",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: NME5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:12:22.792371+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.325",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:11:19.397989+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.73",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: NME5 were set to PMID: 32185794",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:11:19.097301+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.324",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D8 were changed from Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372 to non-syndromic hearing loss MONDO:0019587",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:09:27.031743+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.72",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: NME5 as Green List (high evidence)",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:09:27.020740+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.72",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: nme5 has been classified as Green List (High Evidence).",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:04:01.299629+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.323",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:03:29.272369+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.322",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Classified gene: TBC1D8 as Red List (low evidence)",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:03:29.264781+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.322",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: tbc1d8 has been classified as Red List (Low Evidence).",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:02:56.783063+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.321",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TBC1D8: Changed rating: RED; Changed publications: 35248088; Changed phenotypes: non-syndromic hearing loss MONDO:0019587; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:00:20.731789+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.90",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D8 were changed from Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372 to non obstructive azoospermia or cryptozoospermia MONDO:0005372",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:00:16.804059+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.321",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene TBC1D8 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T15:00:16.493155+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.321",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TBC1D8 was added\ngene: TBC1D8 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TBC1D8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TBC1D8 were set to 41556581; 35248088; 33584793\nPhenotypes for gene: TBC1D8 were set to Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:00:08.769532+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.89",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T15:00:02.196481+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.88",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:59:46.590992+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.87",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: TBC1D8: Changed publications: 41556581; Changed phenotypes: non obstructive azoospermia or cryptozoospermia MONDO:0005372; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:58:36.859756+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.87",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene TBC1D8 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-18T14:58:36.757686+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.87",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: TBC1D8 was added\ngene: TBC1D8 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TBC1D8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TBC1D8 were set to 41556581; 35248088; 33584793\nPhenotypes for gene: TBC1D8 were set to Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372",
"entity_name": "TBC1D8",
"entity_type": "gene"
},
{
"created": "2026-02-18T14:55:30.350151+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.71",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene NME5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
}
]
}