HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=500",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=498",
"results": [
{
"created": "2024-01-04T12:55:11.084961+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BORCS8 as Green List (high evidence)",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:55:11.076434+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:54:23.020494+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: ZRSR2 was added\ngene: ZRSR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to PMID: 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to GREEN\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited \nSources: Literature",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:54:04.177640+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.179",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: CACHD1 was added\ngene: CACHD1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACHD1 were set to PMID: 38158856\nPhenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder MONDO:0800439\nPenetrance for gene: CACHD1 were set to unknown\nReview for gene: CACHD1 was set to GREEN\nAdded comment: PMID: 38158856 - Six affected individuals from four unrelated families with homozygous CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant). Excluding the two fatal cases, all other were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Seizure was reported in one case. Whole exome sequencing identified bi-allelic loss of function variants in the CACHD1 gene. In vitro human neural models of CACHD1 depletion displayed dysregulated of Wnt signaling in the developing brain. \nSources: Literature",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:53:40.126275+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: ZRSR2 was added\ngene: ZRSR2 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to GREEN\ngene: ZRSR2 was marked as current diagnostic\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies. \r\n\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited \nSources: Literature",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:52:56.841016+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.\r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \r\nSources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.\r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \r\nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:52:20.895426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: SPIN4 was added\ngene: SPIN4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPIN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SPIN4 were set to 36927955\nPhenotypes for gene: SPIN4 were set to Lui-Jee-Baron syndrome MIM#301114\nReview for gene: SPIN4 was set to AMBER\nAdded comment: PMID 36927955\r\n* Single family, hemizygous frameshift variant (NM_001012968.3, c.312_313AGdel) identified in a male individual with generalized overgrowth of prenatal onset, variant also present in the mother and grandmother (both had adult heights 2 SDS greater than their midparental heights).\r\n* In vitro shows loss of function and mice studies recapitulated the human phenotype with\r\ngeneralized overgrowth, including increased longitudinal bone growth.\r\nSources: Literature \nSources: Literature",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:51:56.412122+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.\r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \r\nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:51:40.110009+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.\r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \r\nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:51:31.196105+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.540",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.\r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \r\nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:51:27.937780+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2138",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome MIM#608800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:51:22.619679+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.\r\n\r\nBiallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). \nSources: Literature; to: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.\r\n\r\nBiallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). Functional studies on patient fibroblasts showed misregulation of downstream SOX8 targets.\r\nSources: Literature",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:51:16.908662+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.26",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.\r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \r\nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:51:15.021962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SOX8 was added\ngene: SOX8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SOX8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOX8 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088\nPhenotypes for gene: SOX8 were set to Neurodevelopmental disorder (MONDO:0700092), SOX8-related\nReview for gene: SOX8 was set to RED\ngene: SOX8 was marked as current diagnostic\nAdded comment: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.\r\n\r\nBiallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). Functional studies on patient fibroblasts showed misregulation of downstream SOX8 targets. \nSources: Literature",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:50:50.960470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.\r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \r\nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:50:42.781327+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: CACHD1 was added\ngene: CACHD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACHD1 were set to PMID: 38158856\nPhenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder MONDO:0800439\nPenetrance for gene: CACHD1 were set to unknown\nReview for gene: CACHD1 was set to GREEN\nAdded comment: PMID: 38158856 - Six affected individuals from four unrelated families with homozygous CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant). Excluding the two fatal cases, all other were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Seizure was reported in one case. Whole exome sequencing identified bi-allelic loss of function variants in the CACHD1 gene. In vitro human neural models of CACHD1 depletion displayed dysregulated of Wnt signaling in the developing brain. \nSources: Literature",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:50:42.240609+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.9",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: SPIN4 was added\ngene: SPIN4 was added to Overgrowth. Sources: Literature\nMode of inheritance for gene: SPIN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SPIN4 were set to 36927955\nPhenotypes for gene: SPIN4 were set to Lui-Jee-Baron syndrome MIM#301114\nReview for gene: SPIN4 was set to AMBER\ngene: SPIN4 was marked as current diagnostic\nAdded comment: PMID 36927955\r\n* Single family, hemizygous frameshift variant (NM_001012968.3, c.312_313AGdel) identified in a male individual with generalized overgrowth of prenatal onset, variant also present in the mother and grandmother (both had adult heights 2 SDS greater than their midparental heights).\r\n* In vitro shows loss of function and mice studies recapitulated the human phenotype with\r\ngeneralized overgrowth, including increased longitudinal bone growth. \nSources: Literature",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:49:10.622722+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SOX8 was added\ngene: SOX8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SOX8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOX8 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088\nPhenotypes for gene: SOX8 were set to Neurodevelopmental disorder (MONDO:0700092), SOX8-related\nReview for gene: SOX8 was set to RED\ngene: SOX8 was marked as current diagnostic\nAdded comment: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.\r\n\r\nBiallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). \nSources: Literature",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:46:41.800332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: BORCS8 was added\ngene: BORCS8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS8 were set to 38128568\nPhenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related\nReview for gene: BORCS8 was set to GREEN\nAdded comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:44:28.028468+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.26",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: BORCS8 was added\ngene: BORCS8 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS8 were set to 38128568\nPhenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related\nReview for gene: BORCS8 was set to GREEN\nAdded comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:43:35.065537+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: BORCS8 was added\ngene: BORCS8 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS8 were set to 38128568\nPhenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related\nReview for gene: BORCS8 was set to GREEN\nAdded comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:42:14.902494+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2138",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CP were set to PMID: 32741407, PMID: 18200628\nPhenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia\tMIM#604290\nReview for gene: CP was set to AMBER\nAdded comment: Reports of patients x3 with seizures as part of this phenotype. \r\n***This is an adult onset brain iron accumulation neurodegenerative disorder*** \nSources: Expert list",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:42:11.570855+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.540",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: BORCS8 was added\ngene: BORCS8 was added to Regression. Sources: Literature\nMode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS8 were set to 38128568\nPhenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related\nReview for gene: BORCS8 was set to GREEN\nAdded comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:42:09.245548+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:42:09.230507+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:40:02.483097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: BORCS8 was added\ngene: BORCS8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS8 were set to 38128568\nPhenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related\nReview for gene: BORCS8 was set to GREEN\nAdded comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. \r\n\r\nHEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. \nSources: Literature",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:39:26.486070+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ8A as Green List (high evidence)",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:39:26.470797+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:38:20.312263+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ8A as Green List (high evidence)",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:38:20.301693+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:38:15.670664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: GTPBP1 was added\ngene: GTPBP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP1 were set to 38118446\nPhenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related\nReview for gene: GTPBP1 was set to GREEN\nAdded comment: PMID: 38118446- Cohort of individuals with variants in GTPBP2 (which has been previously described) and GTPBP1 (new) who have an identical neurodevelopmental syndrome. 4 homozygous individuals from 3 consanguineous families. 2 families have different NMD-predicted nonsense variants and the third has a missense, all are absent from gnomad v4. \r\n\r\nThe shared cardinal features of GTPBP1 and 2 related disease are microcephaly, profound neurodevelopmental impairment, and distinctive craniofacial features. Epilepsy was present in 10 of 20 individuals but its not clear if those individuals had GTPBP1 or 2 variants. \nSources: Literature",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:36:49.249607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP1 as ready",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:36:49.238445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:36:47.967326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP1 as ready",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:36:47.958914+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:36:35.598561+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.247",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: GTPBP1 was added\ngene: GTPBP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP1 were set to 38118446\nPhenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related\nReview for gene: GTPBP1 was set to GREEN\nAdded comment: PMID: 38118446- Cohort of individuals with variants in GTPBP2 (which has been previously described) and GTPBP1 (new) who have an identical neurodevelopmental syndrome. 4 homozygous individuals from 3 consanguineous families. 2 families have different NMD-predicted nonsense variants and the third has a missense, all are absent from gnomad v4. \r\n\r\nThe shared cardinal features of GTPBP1 and 2 related disease are microcephaly, profound neurodevelopmental impairment, and distinctive craniofacial features. Epilepsy was present in 10 of 20 individuals but its not clear if those individuals had GTPBP1 or 2 variants. \nSources: Literature",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:36:33.131212+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTPBP1 as Green List (high evidence)",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:36:33.117680+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:32:55.609005+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5659",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: GTPBP1 was added\ngene: GTPBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP1 were set to 38118446\nPhenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related\nReview for gene: GTPBP1 was set to GREEN\nAdded comment: PMID: 38118446- Cohort of individuals with variants in GTPBP2 (which has been previously described) and GTPBP1 (new) who have an identical neurodevelopmental syndrome. 4 homozygous individuals from 3 consanguineous families. 2 families have different NMD-predicted nonsense variants and the third has a missense, all are absent from gnomad v4. \r\n\r\nThe shared cardinal features of GTPBP1 and 2 related disease are microcephaly, profound neurodevelopmental impairment, and distinctive craniofacial features. Epilepsy was present in 10 of 20 individuals but its not clear if those individuals had GTPBP1 or 2 variants. \nSources: Literature",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:32:14.685398+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2136",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: COQ8A was added\ngene: COQ8A was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ8A were set to PMID 32337771\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 MIM#612016\nReview for gene: COQ8A was set to GREEN\nAdded comment: PMID 32337771: cohort of 59 individuals. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms. \nSources: Expert list",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:36.829493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT2 as ready",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:36.818888+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:28.902333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT2 as Green List (high evidence)",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:28.890418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:10.020636+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUDT2 as ready",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:10.000962+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:05.838262+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUDT2 as Green List (high evidence)",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:31:05.825718+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nudt2 has been classified as Green List (High Evidence).",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:29:28.037149+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:29:28.024916+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Red List (Low Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:29:23.949709+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CENPF were set to ",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:28:48.371941+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.178",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: NUDT2 was added\ngene: NUDT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDT2 were set to PMID: 38141063\nPhenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844\nReview for gene: NUDT2 was set to GREEN\nAdded comment: 9 individuals with partial agenesis or hypoplasia of the corpus callosum \nSources: Literature",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:28:44.595941+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CENPF as Red List (low evidence)",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:28:44.585027+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Red List (Low Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:27:48.548841+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5 as ready",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:27:48.537090+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:26:40.072405+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Amber List (moderate evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:26:40.049588+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:26:04.636092+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.514",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "edited their review of gene: NUDT2: Changed rating: GREEN",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:25:49.163469+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.514",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: NUDT2 was added\ngene: NUDT2 was added to Callosome. Sources: Literature\nMode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDT2 were set to PMID: 38141063\nPhenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844\nAdded comment: 9 individuals with partial agenesis or hypoplasia of the corpus callosum \nSources: Literature",
"entity_name": "NUDT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:24:59.489768+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:24:59.476452+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:24:14.215338+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK13 as Green List (high evidence)",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:24:14.204639+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:23:24.358544+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCND2 as Red List (low evidence)",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:23:24.349311+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnd2 has been classified as Red List (Low Evidence).",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:23:23.361096+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCND2 as ready",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:23:23.348346+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnd2 has been classified as Red List (Low Evidence).",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:22:17.130118+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCND2 as Red List (low evidence)",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:22:17.117054+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccnd2 has been classified as Red List (Low Evidence).",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:19:46.272561+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNOT2 as ready",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:19:46.255832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnot2 has been classified as Green List (High Evidence).",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:19:39.291042+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNOT2 as Green List (high evidence)",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:19:39.268604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnot2 has been classified as Green List (High Evidence).",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:18:40.947746+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNOT2 was added\ngene: CNOT2 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNOT2 were set to 31512373; 31145527; 28135719\nPhenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608\nReview for gene: CNOT2 was set to GREEN\nAdded comment: Congenital heart disease and poor growth may be detectable prenatally. \nSources: Expert Review",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:03:54.076172+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: COL3A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL3A1 were set to PMID: 28258187, PMID: 37393059, PMID: 28742248, PMID: 22235340\nPhenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343\nReview for gene: COL3A1 was set to GREEN\nAdded comment: PMID: 37393059: 1 family with 2 sibs with epilepsy homozygous VUS variants in COL3A1 \r\nPMID: 28742248 1 family 2 sibs with seizures ID and biallelic variants in COL3A1\r\nPMID: 22235340 mouse model with seizures \nSources: Expert list",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:54:41.595903+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CHD1 was added\ngene: CHD1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD1 were set to 28866611\nPhenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682\nReview for gene: CHD1 was set to GREEN\nAdded comment: 3/6 seizures \nSources: Expert list",
"entity_name": "CHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:48:56.619097+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "edited their review of gene: CENPF: Changed publications: PMID: 35488810; Changed phenotypes: Stromme syndrome MIM#243605",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:48:49.980896+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: No reports of seizures in this phenotype \nSources: Expert list; to: No reports of seizures in this phenotype or in the microcephaly phenotype described \r\nSources: Expert list",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:45:16.062538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CENPF was added\ngene: CENPF was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CENPF were set to Stromme syndrome\tMIM#243605\nReview for gene: CENPF was set to RED\nAdded comment: No reports of seizures in this phenotype \nSources: Expert list",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:37:09.445555+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CDK5 was added\ngene: CDK5 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK5 were set to 25560765\nPhenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia \tMIM#616342\nReview for gene: CDK5 was set to AMBER\nAdded comment: Single family multiple affected individuals, early onset seizures with burst supression pattern on EEG part of the phenotype \nSources: Expert list",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:30:50.874529+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CDK13 was added\ngene: CDK13 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK13 were set to PMID: 29021403, PMID: 35063350\nPhenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360\nReview for gene: CDK13 was set to GREEN\nAdded comment: PMID: 29021403 4/16 had seizures\r\nPMID: 35063350 1 with seizures \nSources: Expert list",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-01-04T11:14:55.943590+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CCND2 was added\ngene: CCND2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCND2 were set to PMID: 24705253\nPhenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938\nReview for gene: CCND2 was set to RED\nAdded comment: seizures not reported in MPPH due to this gene to date \nSources: Expert list",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:45:10.078156+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGF as ready",
"entity_name": "PIGF",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:45:10.053062+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigf has been classified as Red List (Low Evidence).",
"entity_name": "PIGF",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:42:15.786603+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGF as Red List (low evidence)",
"entity_name": "PIGF",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:42:15.777829+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigf has been classified as Red List (Low Evidence).",
"entity_name": "PIGF",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:41:05.356369+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:41:05.340266+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:40:38.353553+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX26 as Green List (high evidence)",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:40:38.340937+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:39:57.458551+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:39:12.762029+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX2 as ready",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:39:12.748688+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Green List (High Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:39:02.532898+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX2 as Green List (high evidence)",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:39:02.464186+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Green List (High Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:37:45.872871+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX2 as Green List (high evidence)",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:37:45.855201+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Green List (High Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:37:03.938843+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-01-03T16:36:14.632552+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, MIM# 309800; NAA10-related syndrome; Seizures to NAA10-related syndrome MONDO:0100124",
"entity_name": "NAA10",
"entity_type": "gene"
}
]
}