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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1255",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1253",
"results": [
{
"created": "2021-08-02T16:21:14.677496+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4017",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TNPO2 was added\ngene: TNPO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNPO2 were set to PMID: 34314705\nPhenotypes for gene: TNPO2 were set to Developmental delays, neurologic deficits and dysmorphic features\nMode of pathogenicity for gene: TNPO2 was set to Other\nReview for gene: TNPO2 was set to GREEN\nAdded comment: PMID: 34314705 - all de novo missense variants with intellectual disability (9/9), speech impairment (15/15), motor impairment (15/15), ophthalmologic abnormalities (10/15), muscle tone abnormalities (11/15, primarily hypotonia), seizures (6/15, febrile to non-febrile), microcephaly (5/15) and MRI anomalies (7/13, 3/13 had cerebellar hypoplasia/dysplasia).\r\n\r\nNull fly model was homozygous lethal, no obvious phenotypes in heterozygotes. Upregulated gene expression also resulted in lethality. Overexpression of some human variants in fly models resulted in \"toxicity\" and phenotypic defects, authors speculate two variants are GOF, 1 variant is LOF.\r\n\r\ngnomAD: minimal PTCs present \nSources: Literature",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-08-02T16:19:13.039769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TNPO2 was added\ngene: TNPO2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNPO2 were set to PMID: 34314705\nPhenotypes for gene: TNPO2 were set to Developmental delays, neurologic deficits and dysmorphic features\nMode of pathogenicity for gene: TNPO2 was set to Other\nReview for gene: TNPO2 was set to GREEN\nAdded comment: PMID: 34314705 - all de novo missense variants with intellectual disability (9/9), speech impairment (15/15), motor impairment (15/15), ophthalmologic abnormalities (10/15), muscle tone abnormalities (11/15, primarily hypotonia), seizures (6/15, febrile to non-febrile), microcephaly (5/15) and MRI anomalies (7/13, 3/13 had cerebellar hypoplasia/dysplasia).\r\n\r\nNull fly model was homozygous lethal, no obvious phenotypes in heterozygotes. Upregulated gene expression also resulted in lethality. Overexpression of some human variants in fly models resulted in \"toxicity\" and phenotypic defects, authors speculate two variants are GOF, 1 variant is LOF.\r\n\r\ngnomAD: minimal PTCs present \nSources: Literature",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2021-08-02T16:12:24.959132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-02T16:10:05.046253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: DNAH10 was added\ngene: DNAH10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAH10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH10 were set to 34237282\nPhenotypes for gene: DNAH10 were set to primary male infertility with asthenoteratozoospermia\nPenetrance for gene: DNAH10 were set to unknown\nReview for gene: DNAH10 was set to GREEN\nAdded comment: 4x families with 5 affecteds (chets and homs - 4 missense and 2 fs). Knockout mouse models were infertile and showed significant reduction in count and motility compared to heterozygous mice \nSources: Literature",
"entity_name": "DNAH10",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:59:06.208136+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TP73 as ready",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:59:06.197077+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Green List (High Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:58:56.400389+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TP73 were changed from chronic airway disease; brain malformation; lissencephaly to brain malformation; lissencephaly",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:58:25.759995+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.2",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TP73 as Green List (high evidence)",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:58:25.750715+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.2",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Green List (High Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:57:36.979078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1G1 as ready",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:57:36.974462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Good evidence for association between mono-allelic variants and NDD, moderate evidence for bi-allelic variants causing disease.",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:57:36.934410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1g1 has been classified as Green List (High Evidence).",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:57:35.924693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "commented on gene: ALDH1A2",
"entity_name": "ALDH1A2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:56:50.245437+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.1",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: TP73 was added\ngene: TP73 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP73 were set to 34077761\nPhenotypes for gene: TP73 were set to chronic airway disease; brain malformation; lissencephaly\nReview for gene: TP73 was set to GREEN\ngene: TP73 was marked as current diagnostic\nAdded comment: - Seven individuals from five unrelated families homozygous for TP73 variants (includes 1x large deletion, 1x splice variant, 1x frameshift and 2x nonsense variants)\r\n- In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls \nSources: Literature",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:56:40.186755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP1G1 as Green List (high evidence)",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:56:40.176147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1g1 has been classified as Green List (High Evidence).",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:54:39.114357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8600",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: SEMA3D: Added comment: Reported as a common susceptibility loci. No reported evidence for an association with Mendelian disease. Sema3d null heterozygote and homozygote mouse model had normal intestinal innervation.; Changed publications: 28334784, 25839327; Changed phenotypes: Hirschsprung disease",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:54:21.951553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8600",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: AP1G1 was added\ngene: AP1G1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AP1G1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AP1G1 were set to 34102099\nPhenotypes for gene: AP1G1 were set to Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy\nMode of pathogenicity for gene: AP1G1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: AP1G1 was set to GREEN\nAdded comment: Two bi-allelic homozygous missense variants were found in two distinct families with Italian and Pakistani origins; homozygous missense variants.\r\n\r\nEight de novo heterozygous variants were identified in nine isolated affected individuals from nine families; including five missense, two frameshift, and one intronic variant that disrupts the canonical splice acceptor site.\r\n\r\nKnocking out AP1G1 Zebrafish model resulted in severe developmental abnormalities and increased lethality. \r\n\r\nAll individuals had neurodevelopmental disorder (NDD) including global developmental delay and ID, which varied in severity from mild to severe. \nSources: Literature",
"entity_name": "AP1G1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:54:00.718348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3D as ready",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:54:00.708328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3d has been classified as Red List (Low Evidence).",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:53:30.143699+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4017",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: TP73 were set to 31130284",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:53:28.324036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA3D were changed from to Hand and foot malformations",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:52:56.987731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA3D as Red List (low evidence)",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:52:56.976764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3d has been classified as Red List (Low Evidence).",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:52:38.862773+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4016",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: PMID: 34211179\r\n- Heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features.\r\n- Show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.\r\n\r\nPMID: 33847457\r\n- Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset.\r\n- identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities).\r\n- Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis.\r\nSources: Literature \nSources: Literature; to: PMID: 34211179\r\n- Heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures (9/29); behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features.\r\n- Show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.\r\n\r\nPMID: 33847457\r\n- Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset.\r\n- identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities).\r\n- Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis.\r\nSources: Literature \r\nSources: Literature",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:52:20.915666+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4016",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TP73 as Green List (high evidence)",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:52:20.904817+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4016",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Green List (High Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:51:33.700207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8598",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: PMID: 34211179\r\n- Heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. \r\n- Show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.\r\n\r\nPMID: 33847457\r\n- Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset.\r\n- identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). \r\n- Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. \nSources: Literature; to: PMID: 34211179\r\n- Heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures (9/29); behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. \r\n- Show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.\r\n\r\nPMID: 33847457\r\n- Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset.\r\n- identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). \r\n- Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. \r\nSources: Literature",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:51:18.045732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN4 as ready",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:51:18.034870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn4 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:51:14.136884+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1149",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: SPTBN1 was added\ngene: SPTBN1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPTBN1 were set to PMID: 34211179 PMID: 33847457\nPhenotypes for gene: SPTBN1 were set to Neurodevelopmental Syndrome\nAdded comment: PMID: 34211179\r\n- Heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures (9/29) ; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features.\r\n- Show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.\r\n\r\nPMID: 33847457\r\n- Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset.\r\n- identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities).\r\n- Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis.\r\nSources: Literature \nSources: Literature",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:51:08.618555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN4 were changed from to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519)",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:50:48.458171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8597",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TP73 as Green List (high evidence)",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:50:48.447253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8597",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Green List (High Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:50:47.547078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN4 were set to ",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:50:18.486223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:50:06.259415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8595",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: TP73 were set to PMID: 31130284",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:49:40.946748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4015",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: SPTBN1 was added\ngene: SPTBN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPTBN1 were set to PMID: 34211179 PMID: 33847457\nPhenotypes for gene: SPTBN1 were set to Neurodevelopmental Syndrome\nReview for gene: SPTBN1 was set to GREEN\nAdded comment: PMID: 34211179\r\n- Heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features.\r\n- Show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.\r\n\r\nPMID: 33847457\r\n- Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset.\r\n- identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities).\r\n- Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis.\r\nSources: Literature \nSources: Literature",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:49:30.675214+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.235",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: HMGB1 was added\ngene: HMGB1 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HMGB1 were set to 34159400\nPhenotypes for gene: HMGB1 were set to Mirror image foot polydactyly\nPenetrance for gene: HMGB1 were set to unknown\nReview for gene: HMGB1 was set to RED\nAdded comment: 1x de novo fs in a proband with severe mirror image foot polydactyly. No functional studies done but cited Itou 2011 - mouse and zebrafish studies demonstrated the role of HMGB1 in regulating digit number during embryonic limb development \nSources: Literature",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:49:01.596989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4015",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EDEM3 as ready",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:49:01.585122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4015",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: edem3 has been classified as Green List (High Evidence).",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:49:00.413364+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.16",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: EDEM3 were changed from EDEM3-congenital disorder of glycosylation to Congenital disorder of glycosylation; Developmental delay",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:57.109051+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.15",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EDEM3 as ready",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:57.098119+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.15",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: edem3 has been classified as Green List (High Evidence).",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:47.076560+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4015",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: EDEM3 were changed from EDEM3-congenital disorder of glycosylation to Congenital disorder of glycosylation; Developmental delay",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:25.832769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGB1 as ready",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:25.819710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgb1 has been classified as Red List (Low Evidence).",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:20.418454+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4014",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: EDEM3 as Green List (high evidence)",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:20.406772+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4014",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: edem3 has been classified as Green List (High Evidence).",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:12.740180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGB1 as Red List (low evidence)",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:48:12.731090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgb1 has been classified as Red List (Low Evidence).",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:47:42.344398+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.15",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: EDEM3 as Green List (high evidence)",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:47:42.334303+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.15",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: edem3 has been classified as Green List (High Evidence).",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:47:04.162216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN1 as ready",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:47:04.150409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn1 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:50.655804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN1 were changed from Neurodevelopmental Syndrome to Neurodevelopmental Syndrome; Intellectual disability; Seizures",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:42.098424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8592",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EDEM3 as ready",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:42.087887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8592",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: edem3 has been classified as Green List (High Evidence).",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:34.770322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8592",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: EDEM3 were changed from EDEM3-congenital disorder of glycosylation to Congenital disorder of glycosylation; Developmental delay",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:28.780814+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.109",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34159400; Phenotypes: isolated split hand malformation; Mode of inheritance: None",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:24.432622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8591",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available)\r\n\r\n1x proband with unilateral split-hand malformation. Her daughter and grandson reported to have ectrofactyly but were unavailable for testing; to: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available)\r\n\r\n1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:17.730352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN1 as Green List (high evidence)",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:46:17.720936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn1 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:45:31.118622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8590",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: EDEM3 as Green List (high evidence)",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:45:31.104088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8590",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: edem3 has been classified as Green List (High Evidence).",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:45:08.155081+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4013",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: EDEM3 was added\ngene: EDEM3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EDEM3 were set to 34143952\nPhenotypes for gene: EDEM3 were set to EDEM3-congenital disorder of glycosylation\nReview for gene: EDEM3 was set to GREEN\nAdded comment: PMID: 34143952: 7 families (11 individuals) with 6x PTV and 2x missense variants with neurodevelopmental delay and variable facial dysmorphisms. The unaffected parents were all heterozygous carriers. Functional show LoF of EDEM3 enzymatic activity. \nSources: Literature",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:44:52.093658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA2 were set to PMID: 31332306; 31587267",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:44:07.708357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA2 as Green List (high evidence)",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:44:07.698421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Green List (High Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:43:33.826110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8587",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ALDH1A2: Rating: RED; Mode of pathogenicity: None; Publications: 34159400; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ALDH1A2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:42:50.556834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCNA as ready",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:42:50.545623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcna has been classified as Green List (High Evidence).",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:42:36.078012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCNA as Green List (high evidence)",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:42:36.067951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcna has been classified as Green List (High Evidence).",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:41:05.009906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SEMA3D was added\ngene: SEMA3D was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEMA3D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SEMA3D were set to 34159400\nPenetrance for gene: SEMA3D were set to unknown\nReview for gene: SEMA3D was set to RED\nAdded comment: 1x de novo missense in a proband with short stature, absent distal phalanges of the 5th fingers and toes, and dysplastic middle phalanges of the toes. \r\n\r\nHowever, there is 4 hets in gnomAD v2 \nSources: Literature",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:39:52.503391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33772159; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:39:43.870357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Seven individuals from five unrelated families homozygous for TP73 variants (includes 1x large deletion, 1x splice variant, 1x frameshift and 2x nonsense variants)\r\n - Epithelial cells from TP73 variant carriers showed reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls; to: - Seven individuals from five unrelated families homozygous for TP73 variants (includes 1x large deletion, 1x splice variant, 1x frameshift and 2x nonsense variants)\r\n- In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:35:11.355107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34077761; Phenotypes: chronic airway disease, brain malformation, lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:34:59.950265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x de novo fs, no functional studies done but cited Itou 2011 - mouse and zebrafish studies demonstrated the role of HMGB1 in regulating digit number during embryonic limb development \nSources: Literature; to: 1x de novo fs in a proband with severe mirror image foot polydactyly. No functional studies done but cited Itou 2011 - mouse and zebrafish studies demonstrated the role of HMGB1 in regulating digit number during embryonic limb development \r\nSources: Literature",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:34:29.532762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: HMGB1 was added\ngene: HMGB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HMGB1 were set to 34159400\nPhenotypes for gene: HMGB1 were set to Mirror image foot polydactyly\nPenetrance for gene: HMGB1 were set to unknown\nReview for gene: HMGB1 was set to RED\nAdded comment: 1x de novo fs, no functional studies done but cited Itou 2011 - mouse and zebrafish studies demonstrated the role of HMGB1 in regulating digit number during embryonic limb development \nSources: Literature",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:32:08.044744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: SPTBN1 was added\ngene: SPTBN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPTBN1 were set to PMID: 34211179; PMID: 33847457\nPhenotypes for gene: SPTBN1 were set to Neurodevelopmental Syndrome\nReview for gene: SPTBN1 was set to GREEN\nAdded comment: PMID: 34211179\r\n- Heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. \r\n- Show that these SPTBN1 variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.\r\n\r\nPMID: 33847457\r\n- Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset.\r\n- identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). \r\n- Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. \nSources: Literature",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:30:51.733974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34159400; Phenotypes: isolated split hand malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:28:44.098590+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.14",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: EDEM3 was added\ngene: EDEM3 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EDEM3 were set to 34143952\nPhenotypes for gene: EDEM3 were set to EDEM3-congenital disorder of glycosylation\nReview for gene: EDEM3 was set to GREEN\nAdded comment: PMID: 34143952: 7 families (11 individuals) with 6x PTV and 2x missense variants with neurodevelopmental delay and variable facial dysmorphisms. The unaffected parents were all heterozygous carriers. Functional show LoF of EDEM3 enzymatic activity.\r\nSources: Literature \nSources: Literature",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:25:57.846766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: EDEM3 was added\ngene: EDEM3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EDEM3 were set to 34143952\nPhenotypes for gene: EDEM3 were set to EDEM3-congenital disorder of glycosylation\nReview for gene: EDEM3 was set to GREEN\nAdded comment: PMID: 34143952: 7 families (11 individuals) with 6x PTV and 2x missense variants with neurodevelopmental delay and variable facial dysmorphisms. The unaffected parents were all heterozygous carriers. Functional show LoF of EDEM3 enzymatic activity. \nSources: Literature",
"entity_name": "EDEM3",
"entity_type": "gene"
},
{
"created": "2021-08-02T15:17:12.878675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GCNA was added\ngene: GCNA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GCNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GCNA were set to 33963445\nPhenotypes for gene: GCNA were set to primary spermatogenic failure\nPenetrance for gene: GCNA were set to unknown\nReview for gene: GCNA was set to GREEN\nAdded comment: 7x probands all missense except 1 fs. Variants had <0.0005 MAF in gnomad v2 male cohort and absent in 5784 Dutch control cohort\r\nno functional studies were done except for histology of Ser659Trp, revealing a Sertoli-cell only \nSources: Literature",
"entity_name": "GCNA",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:24:52.218648+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK2 were changed from Long QT syndrome to Complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:17:26.430572+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK2 as Green List (high evidence)",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:17:26.420499+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Green List (High Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:17:15.469685+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491, 33004838, 33057194; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:16:18.985891+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:15:35.783237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANK2 as ready",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:15:35.769996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Green List (High Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:15:23.551269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANK2 as Green List (high evidence)",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:15:23.540899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Green List (High Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:15:02.909863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANK2 was added\ngene: ANK2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANK2 were set to 31983240; 22542183; 25363768; 27479843; 28554332; 30564305; 30755392; 31981491; 33004838; 33057194\nPhenotypes for gene: ANK2 were set to Long QT syndrome 4, MIM# 600919; Complex neurodevelopmental disorder, MONDO:0100038\nReview for gene: ANK2 was set to GREEN\nAdded comment: Link with cardiac abnormalities such as LongQT is DISPUTED. More than 10 unrelated individuals reported with neurodevelopmental phenotype, comprising autism/ID and de novo truncating variants, in addition to many other individuals as part of large NDD cohorts. This association has been assessed as DEFINITIVE by ClinGen. \nSources: Expert Review",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:14:44.116736+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANK2 as ready",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:14:44.105644+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Green List (High Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:13:02.159973+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANK2 as ready",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:13:02.149844+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank2 has been classified as Red List (Low Evidence).",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2021-08-02T12:12:56.529543+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK2 were changed from to Long QT syndrome 4, MIM# 600919",
"entity_name": "ANK2",
"entity_type": "gene"
}
]
}