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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=585",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=583",
"results": [
{
"created": "2023-07-06T12:54:08.129836+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.114",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DRG1 was added\ngene: DRG1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DRG1 were set to PMID: 37179472\nPhenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related\nReview for gene: DRG1 was set to GREEN\nAdded comment: PMID: 37179472\r\n- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. \nSources: Literature",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:53:56.941920+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5253",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:53:56.934958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5253",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:52:40.892719+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MIR204 as Amber List (moderate evidence)",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:52:40.877669+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mir204 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:49:53.669502+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: This paper that indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.; to: Comment on list classification: This paper indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:49:24.625190+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ANO1 as ready",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:49:24.606172+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ano1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:49:18.915945+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.34",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: ANO1 were changed from moyamoya; cerebral arteriopathy to Moyamoya disease, MONDO:0016820, ANO1 related",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:47:39.141460+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ANO1 as Amber List (moderate evidence)",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:47:39.134300+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This paper that indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:47:39.080960+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ano1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:46:49.388504+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.5",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Radial Ray Abnormalities. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37384395\nPhenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies\nPenetrance for gene: RAB34 were set to Complete\nReview for gene: RAB34 was set to GREEN\nAdded comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.\r\n\r\nIdentified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). \r\n\r\nAffected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.\r\n\r\nRAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. \r\n\r\nOnset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.\r\n\r\nIn the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.\r\n\r\nAll four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.\r\n\r\nAll with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:45:56.318581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.958",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: DCAF13 was added\ngene: DCAF13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DCAF13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF13 were set to 36797467\nPhenotypes for gene: DCAF13 were set to Neuromuscular disease (MONDO#0019056), DCAF13-related\nReview for gene: DCAF13 was set to RED\nAdded comment: One consanguineous family, 4x individuals homozygous NM_015420.7(DCAF13)c.907 G > A; p.(Asp303Asn) (3x via WES and 1x via Sanger) with a neuromuscular disorder characterized by a waddling gait, limb deformities, muscular weakness and facial palsy.\r\n\r\nIn silicos analysis of mutant DCAF13 suggests that the amino acid change is deleterious and affects a ß-hairpin turn, within a WD40 domain of the protein which may decrease protein stability. Functional studies were not performed.\r\n\r\nPreviously, a heterozygous variant in DCAF13 with or without a heterozygous missense variant in CCN3, was suggested to cause inherited cortical myoclonic tremor with epilepsy. In addition, a heterozygous DCAF13 variant has been associated with autism spectrum disorder. \nSources: Literature",
"entity_name": "DCAF13",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:45:47.190643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.958",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ERI1 as ready",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:45:47.183257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.958",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:45:43.875633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.958",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:45:43.864770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.958",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:45:26.773395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.957",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ERI1 was added\ngene: ERI1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERI1 were set to 37352860\nPhenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related\nReview for gene: ERI1 was set to GREEN\nAdded comment: PMID: 37352860 - 8 individuals from 7 unrelated families\r\n- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly\r\n- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly\r\n- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive\r\n\r\n- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells\r\n- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense\r\n\r\nMore severe phenotype hypothesised due to \"exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy\r\nwith ERI1, staying bound to those RNA molecules\" \nSources: Literature",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:42:23.444756+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:42:23.435769+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:42:15.452912+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5252",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SART3 was added\ngene: SART3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SART3 were set to PMID: 37296101\nPhenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related, with 46,XY gonadal dysgenesis\nReview for gene: SART3 was set to GREEN\nAdded comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG.\r\n\r\nHuman induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. \nSources: Expert list",
"entity_name": "SART3",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:42:02.318652+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:42:02.293958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:41:38.327011+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ERI1 as ready",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:41:38.307508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Red List (Low Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:41:26.964843+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:41:26.957708+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:41:07.327009+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:41:07.318429+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:40:52.784514+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.203",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ERI1 as ready",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:40:52.773257+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.203",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Red List (Low Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:38:46.895744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.956",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37384395\nPhenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies\nPenetrance for gene: RAB34 were set to Complete\nReview for gene: RAB34 was set to GREEN\nAdded comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.\r\n\r\nIdentified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). \r\n\r\nAffected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.\r\n\r\nRAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. \r\n\r\nOnset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.\r\n\r\nIn the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.\r\n\r\nAll four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.\r\n\r\nAll with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:38:44.139968+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ERI1 was added\ngene: ERI1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERI1 were set to 37352860\nPhenotypes for gene: ERI1 were set to Intellectual disability (MONDO#0001071), ERI1-related\nReview for gene: ERI1 was set to GREEN\nAdded comment: PMID: 37352860 - 8 individuals from 7 unrelated families\r\n- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly\r\n- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly\r\n- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive\r\n\r\n- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells\r\n- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense\r\n\r\nMore severe phenotype hypothesised due to \"exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy\r\nwith ERI1, staying bound to those RNA molecules\" \nSources: Literature",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:38:32.246501+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.203",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ERI1 was added\ngene: ERI1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERI1 were set to 37352860\nPhenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related\nReview for gene: ERI1 was set to GREEN\nAdded comment: PMID: 37352860 - 8 individuals from 7 unrelated families\r\n- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly\r\n- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly\r\n- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive\r\n\r\n- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells\r\n- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense\r\n\r\nMore severe phenotype hypothesised due to \"exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy\r\nwith ERI1, staying bound to those RNA molecules\" \nSources: Literature",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:38:00.999601+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.495",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Callosome. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37384395\nPhenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies\nPenetrance for gene: RAB34 were set to Complete\nReview for gene: RAB34 was set to GREEN\nAdded comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.\r\n\r\nIdentified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). \r\n\r\nAffected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.\r\n\r\nRAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. \r\n\r\nOnset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.\r\n\r\nIn the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.\r\n\r\nAll four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.\r\n\r\nAll with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:37:47.664547+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.237",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:37:35.658450+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.100",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32554502; Phenotypes: DKC1-related disorder - MONDO: 0100152; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:37:16.631796+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37384395\nPhenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies\nPenetrance for gene: RAB34 were set to Complete\nReview for gene: RAB34 was set to GREEN\nAdded comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.\r\n\r\nIdentified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). \r\n\r\nAffected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.\r\n\r\nRAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. \r\n\r\nOnset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.\r\n\r\nIn the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.\r\n\r\nAll four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.\r\n\r\nAll with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:36:11.493188+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1865",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: RPH3A was added\ngene: RPH3A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPH3A were set to 37403762; 29441694\nPhenotypes for gene: RPH3A were set to Neurodevelopmental disorder (MONDO#0700092), RPH3A-related\nReview for gene: RPH3A was set to GREEN\nAdded comment: PMID: 37403762- 6 patients with RPH3A variant. All 6 have ID, 4 have epilepsy, 2 with obesity, 1 with dysmorphic features. All 6 have missense variants, 3 shown to be de novo, the other 3 parents were not available for testing. I patient also had language and motor impairment, breathing issues and mixed hypo/hypertonia- he also had variants in CUL4B, PRKAG2, SCN4A, none of these genes cause seizures (which he had).\r\n\r\nPatch clamp studies on 2 of the missense showed they increased either the number of NMDA receptors on neuron membrane surface or increased their conductance. Study suggests that the variants interrupt the normal role of RPH3A activity at the synaptic NMDAR complex which is needed for the induction of synaptic plasticity and NMDAR-dependant behaviours\r\n\r\nAlso previously 1 biallelic patient was reported, PMID: 29441694- 1 girl with learning disabilities, tremors, ataxia, hyperglycemia and muscle fatigability. Chet for 2 RPH3A missense. Functional analysis showed strong and marginal impairment of protein binding for each variant. \nSources: Literature",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:36:01.373778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.956",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DRG1 was added\ngene: DRG1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DRG1 were set to PMID: 37179472\nPhenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related\nReview for gene: DRG1 was set to GREEN\nAdded comment: PMID: 37179472\r\n- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. \nSources: Literature",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:35:10.704678+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5250",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: RPH3A was added\ngene: RPH3A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPH3A were set to 37403762; 29441694\nPhenotypes for gene: RPH3A were set to Neurodevelopmental disorder (MONDO#0700092), RPH3A-related\nReview for gene: RPH3A was set to GREEN\nAdded comment: PMID: 37403762- 6 patients with RPH3A variant. All 6 have ID, 4 have epilepsy, 2 with obesity, 1 with dysmorphic features. All 6 have missense variants, 3 shown to be de novo, the other 3 parents were not available for testing. I patient also had language and motor impairment, breathing issues and mixed hypo/hypertonia- he also had variants in CUL4B, PRKAG2, SCN4A, none of these genes cause seizures (which he had).\r\n\r\nPatch clamp studies on 2 of the missense showed they increased either the number of NMDA receptors on neuron membrane surface or increased their conductance. Study suggests that the variants interrupt the normal role of RPH3A activity at the synaptic NMDAR complex which is needed for the induction of synaptic plasticity and NMDAR-dependant behaviours\r\n\r\nAlso previously 1 biallelic patient was reported, PMID: 29441694- 1 girl with learning disabilities, tremors, ataxia, hyperglycemia and muscle fatigability. Chet for 2 RPH3A missense. Functional analysis showed strong and marginal impairment of protein binding for each variant. \nSources: Literature",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:35:07.118745+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.114",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: RAB34 was added\ngene: RAB34 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB34 were set to PMID: 37384395\nPhenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies\nPenetrance for gene: RAB34 were set to Complete\nReview for gene: RAB34 was set to GREEN\nAdded comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.\r\n\r\nIdentified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). \r\n\r\nAffected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.\r\n\r\nRAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. \r\n\r\nOnset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.\r\n\r\nIn the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.\r\n\r\nAll four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.\r\n\r\nAll with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. \nSources: Literature",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:33:15.703247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.956",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: RPH3A was added\ngene: RPH3A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPH3A were set to 37403762; 29441694\nPhenotypes for gene: RPH3A were set to Neurodevelopmental disorder (MONDO#0700092), RPH3A-related\nReview for gene: RPH3A was set to GREEN\nAdded comment: PMID: 37403762- 6 patients with RPH3A variant. All 6 have ID, 4 have epilepsy, 2 with obesity, 1 with dysmorphic features. All 6 have missense variants, 3 shown to be de novo, the other 3 parents were not available for testing. I patient also had language and motor impairment, breathing issues and mixed hypo/hypertonia- he also had variants in CUL4B, PRKAG2, SCN4A, none of these genes cause seizures (which he had).\r\n\r\nPatch clamp studies on 2 of the missense showed they increased either the number of NMDA receptors on neuron membrane surface or increased their conductance. Study suggests that the variants interrupt the normal role of RPH3A activity at the synaptic NMDAR complex which is needed for the induction of synaptic plasticity and NMDAR-dependant behaviours\r\n\r\nPreviously this gene was reported in PMID: 29441694- 1 girl with learning disabilities, tremors, ataxia, hyperglycemia and muscle fatigability. Chet for 2 RPH3A missense. Functional analysis showed strong and marginal impairment of protein binding for each variant. this is the only biallelic report currently. \nSources: Literature",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:32:02.507527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.956",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: MIR204 was added\ngene: MIR204 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR204 were set to 26056285; 37321975\nPhenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)\nMode of pathogenicity for gene: MIR204 was set to Other\nReview for gene: MIR204 was set to GREEN\ngene: MIR204 was marked as current diagnostic\nAdded comment: PMID: 26056285\r\n- Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family.\r\n- Heterozygous n.37C>T segregates with the disease in all affected individuals.\r\n- Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family. \r\n- Authors suggested gain of function is the likely disease mechanism.\r\n\r\nPMID: 37321975\r\n- Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T.\r\n- Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants.\r\n- Haplotype analysis excluded relatedness with the family reported in PMID: 26056285.\r\n- In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant. \nSources: Literature",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:31:07.588749+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.17",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: MIR204 was added\ngene: MIR204 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR204 were set to 26056285; 37321975\nPhenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)\nMode of pathogenicity for gene: MIR204 was set to Other\nReview for gene: MIR204 was set to GREEN\ngene: MIR204 was marked as current diagnostic\nAdded comment: PMID: 26056285\r\n- Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family.\r\n- Heterozygous n.37C>T segregates with the disease in all affected individuals.\r\n- Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family. \r\n- Authors suggested gain of function is the likely disease mechanism.\r\n\r\nPMID: 37321975\r\n- Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T.\r\n- Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants.\r\n- Haplotype analysis excluded relatedness with the family reported in PMID: 26056285.\r\n- In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant. \nSources: Literature",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:29:27.814092+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.236",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:29:27.807551+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.236",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:28:59.692641+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.235",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ERI1 as Green List (high evidence)",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:28:59.681922+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.235",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Green List (High Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:28:50.995484+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.234",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ERI1 as ready",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:28:50.982291+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.234",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: eri1 has been classified as Red List (Low Evidence).",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:28:26.023908+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.234",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ERI1 was added\ngene: ERI1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERI1 were set to 37352860\nPhenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related\nReview for gene: ERI1 was set to GREEN\nAdded comment: PMID: 37352860 - 8 individuals from 7 unrelated families\r\n- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly\r\n- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly\r\n- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive\r\n\r\n- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells\r\n- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense\r\n\r\nMore severe phenotype hypothesised due to \"exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy\r\nwith ERI1, staying bound to those RNA molecules\" \nSources: Literature",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:28:12.497955+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5250",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DRG1 was added\ngene: DRG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DRG1 were set to PMID: 37179472\nPhenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related\nReview for gene: DRG1 was set to GREEN\nAdded comment: PMID: 37179472\r\n- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. \nSources: Literature",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:27:46.704677+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.32",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: ANO1 was added\ngene: ANO1 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO1 were set to PMID: 37253099\nPhenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy\nReview for gene: ANO1 was set to GREEN\nAdded comment: PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. \nSources: Literature",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T10:40:37.093185+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-07-06T02:27:08.405660+10:00",
"panel_name": "Neuromuscular Superpanel",
"panel_id": 4092,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-07-05T17:08:33.685366+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301416, 21070211; Phenotypes: Krabbe Disease MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-07-05T16:48:43.112452+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-07-05T16:13:38.012336+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661097, 19438933; Phenotypes: Spastic paraplegia 15 MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-07-05T10:03:25.930105+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CD2AP were changed from focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T10:01:06.082447+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:59:42.060093+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CD2AP were set to 30612599; 17713465",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:58:26.357823+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:57:18.658477+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CD2AP as Green List (high evidence)",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:57:18.654564+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: Definitive gene-disease assessment by ClinGen Glomerulopathy GCEP - classified 13/12/2021",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:57:18.600593+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd2ap has been classified as Green List (High Evidence).",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:56:18.216317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.956",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:42:14.132794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.955",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CD2AP were set to 30612599; 17713465; 10997929; 12764198; 15951437",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:39:33.491133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.954",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CD2AP were set to 30612599; 17713465",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:37:38.074093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.953",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:37:19.109632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.952",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CD2AP as Green List (high evidence)",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:37:19.102706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.952",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Definitive gene-disease assessment by ClinGen Glomerulopathy GCEP - classified 13/12/2021",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-05T09:37:19.079485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.952",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd2ap has been classified as Green List (High Evidence).",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2023-07-01T22:05:41.174945+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBLB were changed from Autoimmune disease, MONDO:0007179 to Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2023-07-01T22:04:15.943609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBLB were changed from Autoimmune disease, MONDO:0007179 to Autoimmune disease, multisystem, infantile-onset, 3, MIM#\t620430",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2023-07-01T22:01:39.249821+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS11 as ready",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-07-01T22:01:39.234183+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints11 has been classified as Green List (High Evidence).",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-07-01T22:01:32.282055+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INTS11 as Green List (high evidence)",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-07-01T22:01:32.268528+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints11 has been classified as Green List (High Evidence).",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-07-01T22:01:17.936057+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INTS11 was added\ngene: INTS11 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS11 were set to 37054711\nPhenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428\nReview for gene: INTS11 was set to GREEN\nAdded comment: PMID: 37054711 - 15 individuals from 10 unrelated families with bi-allelic variants in INTS11 with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages.\r\n\r\nRetinal dystrophy reported. \nSources: Expert Review",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-07-01T21:58:09.024512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-07-01T21:55:15.989528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM#\t620428",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-07-01T21:29:17.808615+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRRM2 were set to 33057194",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2023-07-01T21:28:33.117395+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRRM2 were changed from neurodevelopmental disorder MONDO:0700092 SRRM2-related to Intellectual developmental disorder, autosomal dominant 72, MIM# 620439",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2023-07-01T21:27:29.674341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRRM2 were changed from Neurodevelopmental disorder MONDO:0700092 SRRM2-related to Intellectual developmental disorder, autosomal dominant 72, MIM#\t620439",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2023-06-30T17:26:19.036988+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.240",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 31426520, 33972609, 36553628, 16737839; Phenotypes: Wilson disease (MONDO:0010200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-06-29T00:14:36.601555+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP54 were changed from Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia to Dystonia 37, early-onset, with striatal lesions, MIM# 620427; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2023-06-29T00:13:43.801170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP54 were changed from Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia to Dystonia 37, early-onset, with striatal lesions, MIM#\t620427; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia",
"entity_name": "NUP54",
"entity_type": "gene"
},
{
"created": "2023-06-29T00:12:13.161113+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The following variants have been associated with aminoglycoside-induced deafness:\r\nm.1555A>G\r\nm.1005T>C\r\nm.1095T>C\r\n\r\nAlerts can be placed in medical records to avoid aminoglycoside administration. \nSources: Expert Review; to: The following variants have been associated with aminoglycoside-induced deafness:\r\nm.1555A>G and m.1494C>T \r\n\r\nAlerts can be placed in medical records to avoid aminoglycoside administration. \r\nSources: Expert Review",
"entity_name": "MT-RNR1",
"entity_type": "gene"
},
{
"created": "2023-06-29T00:10:12.091874+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD1 were changed from Situs inversus; primary ciliary dyskinesia like to Situs inversus; Ciliary dyskinesia, primary, 51, MIM# 620438",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2023-06-29T00:09:10.832564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD1 were changed from Asthenoteratozoospermia, likely primary ciliary dyskinesia to Ciliary dyskinesia, primary, 51, MIM# 620438",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2023-06-29T00:08:36.101827+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD1 were changed from Primary ciliary dyskinesia, asthenoteratozoospermia to Ciliary dyskinesia, primary, 51, MIM# 620438",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2023-06-29T00:08:01.578398+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRWD1: Changed phenotypes: Ciliary dyskinesia, primary, 51, MIM# 620438",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:49:48.942615+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPINK5 as ready",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:49:48.929753+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spink5 has been classified as Green List (High Evidence).",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:49:39.913657+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SPINK5 was changed from Other to None",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:48:58.343730+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPINK5 as Green List (high evidence)",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:48:58.313111+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spink5 has been classified as Green List (High Evidence).",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:47:40.147491+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT6C as ready",
"entity_name": "KRT6C",
"entity_type": "gene"
}
]
}