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"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=408",
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"results": [
{
"created": "2024-08-12T20:13:55.361013+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:13:18.324725+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:13:18.312960+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:13:14.065208+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:13:14.055719+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:12:33.118675+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:12:33.103809+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:12:08.630898+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:12:08.620549+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:11:06.387005+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:11:06.373618+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:10:59.629037+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:10:59.616379+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:10:10.607822+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:10:10.586056+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:10:06.548785+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:10:06.538172+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:09:26.524858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:09:26.513003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:09:18.494777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:09:18.482667+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:54.246295+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:54.236165+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:48.162428+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:48.146327+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:12.763793+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:12.749371+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:08.521550+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:08:08.508035+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:07:27.068656+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:07:27.051940+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:07:21.589606+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:07:21.577040+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T14:42:55.853611+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "gene: SERPIND1 was added\ngene: SERPIND1 was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SERPIND1 were set to PMID: 12421148; PMID: 35592395; PMID: 2647747; PMID: 11204559; PMID: 10494755\nPhenotypes for gene: SERPIND1 were set to HEPARIN COFACTOR II DEFICIENCY #612356\nReview for gene: SERPIND1 was set to AMBER\ngene: SERPIND1 was marked as current diagnostic\nAdded comment: Also known as HCF2. There is evidence of protein to phenotype links but not many recent papers linking specific genetic variants to phenotype. Expect more given the first link to inherited thrombosis was published in 1985 (PMID: 2863444). There are two papers that used PCR to determine mutation in an affected individual (PMID: 2647747) published in 1989 and a paper in 2001 (PMID: 11204559). There is a paper reporting homozygous HCII but could not access paper (abstract only) (PMID: 10494755). This 2002 review (PMID: 12421148) lists 5 publications with 5 different molecular mutations linked to Heparin Cofactor II Deficiency. This review also notes that most of the case reports concluded that \"inherited HCII deficiency is not a strong risk factor for thrombosis or that it contributes to thrombotic risk only when combined with other deficiencies.\" A more recent review (PMID: 35592395) has similar view and literature searches don't reveal recent papers with reports of variants linked to thrombosis. \nSources: Expert list",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:59:33.601027+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.366",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID: 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:59:12.106538+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.43",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID: 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:58:19.646183+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.309",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:58:17.551847+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.270",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID:38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:55:18.056630+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.526",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID: 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:54:30.952873+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.412",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:52:52.662841+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.264",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID: 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: Prenatal features reported include polyhydramnios, IUGR, preterm labour. Other reported features such as brain anomalies, arthrogryposis have the potential to be ascertained prenatally also.\r\n--\r\nPMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:48:21.300828+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.66",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autisim and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:46:36.687403+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.190",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autisim and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:43:35.136605+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6121",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID 38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autisim and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:32:45.314443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1948",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID:38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families identified through exome sequencing and subsequent gene-sharing efforts with biallelic missense CSMD1 variants. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected. \r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells (hESCs). \r\n\r\nClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autisim and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T13:13:49.900624+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "gene: SERPINC1 was added\ngene: SERPINC1 was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: SERPINC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SERPINC1 were set to PMID: 14347873; PMID: 36624481; PMID: 28300866\nPhenotypes for gene: SERPINC1 were set to Thrombophilia 7 due to antithrombin III deficiency #613118\nReview for gene: SERPINC1 was set to GREEN\ngene: SERPINC1 was marked as current diagnostic\nAdded comment: Well established gene-phenotype relationship. Mostly autosomal dominant inheritance (autosomal recessive inheritance is rare but has been published). Have listed an early publication (1965) establishing this link and two more recent papers. \nSources: Expert list",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2024-08-12T12:55:09.351312+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912, 23755938; Phenotypes: Periventricular heterotopia with microcephaly, 608097 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2024-08-12T12:10:40.690814+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "gene: PROS1 was added\ngene: PROS1 was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: PROS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PROS1 were set to PMID: 2521801; PMID: 7545463; PMID: 2231208; PMID: 10063989\nPhenotypes for gene: PROS1 were set to Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514\nReview for gene: PROS1 was set to GREEN\ngene: PROS1 was marked as current diagnostic\nAdded comment: Strong gene-phenotype link. Many publications for both both autosomal dominant and autosomal recessive inheritance of PROS1 variants and thrombosis phenotype. \nSources: Expert list",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2024-08-12T11:54:49.594253+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "changed review comment from: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes. \nSources: Expert list; to: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes. \r\nSources: Expert list\r\n\r\nNote: a few publications on constitutive PIGA mutations don't describe thrombosis as part of the phenotype. Note that homozygous/hemizygous mutations are rare and quite lethal.\r\n\r\nPMID: 22305531\r\nPMID: 34875027\r\n",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-08-12T10:17:26.102212+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.126",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: TMEFF1 was added\ngene: TMEFF1 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: TMEFF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEFF1 were set to PMID: 39048830\nPhenotypes for gene: TMEFF1 were set to hsv encephalitis\nReview for gene: TMEFF1 was set to GREEN\nAdded comment: 2 unrelated patients with severe HSV encephalitis. Functional validation showing that human TMEFF1 encodes a type I IFN-independent, cortical neuron- and CNS-intrinsic restriction factor that is effective against HSV-1 that operates by impairing the entry of HSV-1 into cortical neurons. \nSources: Literature",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-12T10:08:04.670360+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.48",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: REXO2 was added\ngene: REXO2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REXO2 were set to PMID: 39107301\nPhenotypes for gene: REXO2 were set to type 1 interferonopathy\nMode of pathogenicity for gene: REXO2 was set to Other\nReview for gene: REXO2 was set to AMBER\nAdded comment: Female infant of Chinese ancestry, presented at 2 years of age with whole-body rash with histological features of hyperkeratosis, parakeratosis and acanthosis with elongated rete ridges, focal liquefaction and degeneration of the basal layers of epidermis, vascular proliferation in the superficial dermis, infiltration of lymphocytes and eosinophils around small blood vessels in the dermis. She has recurrent infections (frequent and severe pneumonia). \r\nExtensive functional validation demonstrating heterozygous de novo mutation (p.T132A) impairs REXO2’s ability to cleave RNA leading to activation of the dsRNA sensor MDA5 leading to a Type 1 interferonopathy. \nSources: Literature",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-12T09:22:06.301730+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-1 as ready",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2024-08-12T09:22:06.287259+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-1 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2024-08-12T09:22:03.344779+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-1 were set to ",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2024-08-12T09:21:36.278976+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2024-08-12T09:21:09.480219+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2024-08-09T17:49:07.480731+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347, 32637636; Phenotypes: Mitochondrial complex IV deficiency, 220110 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2024-08-09T16:45:22.318238+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23161355, 18798333, 19796186, 32533185, 32204707, 31795264, 20301637, 16909395; Phenotypes: Peters-plus syndrome(MIM#261540); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2024-08-09T16:01:31.311163+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-08-09T16:01:31.298612+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-08-09T16:01:27.850643+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREBBP as Green List (high evidence)",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-08-09T16:01:27.822040+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-08-09T16:01:18.897708+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CREBBP were set to 35626936\nPhenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM# 618332\nReview for gene: CREBBP was set to GREEN\nAdded comment: Cleft palate is a reported feature in several patients. \nSources: Expert Review",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-08-09T15:23:34.013473+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664117, 29931299, 29443383, 23664118, 28306229, 25149931; Phenotypes: Al-Gazali syndrome(MIM#609465), Ehlers-Danlos syndrome, spondylodysplastic type, 2(MIM#615349), Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures(MIM#271640); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2024-08-08T18:15:53.670272+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFRP as ready",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T18:15:53.661208+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Promote to Green for V2.",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T18:15:53.631790+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfrp has been classified as Red List (Low Evidence).",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T18:15:31.182292+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFRP was added\ngene: MFRP was added to Prepair 1000+. Sources: Expert Review\nMode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFRP were set to 17167404; 18554571; 20361016\nPhenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040\nReview for gene: MFRP was set to GREEN\nAdded comment: More than 10 unrelated families reported with bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Causes congenital visual impairment. \nSources: Expert Review",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2024-08-08T17:01:51.783139+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.50",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 30888838\r\n10x families with a single affected, all missense\r\n5x unknown inheritance\r\n5x inherited from n unaffected parent\r\n\r\n1x 2 generational fam with an unaffected obligate carrier, missense variant \r\n\r\nvariants reported and their counts in gnomad v4:\r\nAla2013Thr 1091 hets 1 hom\r\nArg297His 97 hets \r\nThr585Met 36 hets\r\nPro942Leu 62 hets\r\nAla1219Val 44 hets\r\nArg1241Trp 13 hets\r\nSer1333Thr absent\r\nVal1964Ile 185 hets\r\nThr2098Met 358 hets\r\nVal2440Glu absent\r\n\r\nPMID: 36103205\r\n2x individual however only 1 has a personal history of R-SCAD\r\nAla1574Val\r\n\r\nSources: Literature; to: PMID: 30888838\r\n10x families with a single affected, all missense\r\n5x unknown inheritance\r\n5x inherited from an unaffected parent\r\n\r\n1x 2 generational fam with an unaffected obligate carrier, missense variant \r\n\r\nvariants reported and their counts in gnomad v4:\r\nAla2013Thr 1091 hets 1 hom\r\nArg297His 97 hets \r\nThr585Met 36 hets\r\nPro942Leu 62 hets\r\nAla1219Val 44 hets\r\nArg1241Trp 13 hets\r\nSer1333Thr absent\r\nVal1964Ile 185 hets\r\nThr2098Met 358 hets\r\nVal2440Glu absent\r\n\r\nPMID: 36103205\r\n2x individual however only 1 has a personal history of R-SCAD\r\nAla1574Val\r\n\r\nSources: Literature",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:56:51.334229+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.50",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: LMX1B were set to 37979122; 29650765",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:56:46.513136+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: LMX1B as Amber List (moderate evidence)",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:56:46.496643+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:55:45.468430+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Changed rating: AMBER; Changed publications: 29650765; Changed phenotypes: Nail-patella syndrome MIM#161200",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:55:33.985076+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nHowever, only a single patient found in literature\r\nPMID: 29650765; 1x individual with SCAD and an NMD fs \r\n\r\nthis gene is constraint for LoF in gnomad v4 with only 2 hets for an NMD variant.\r\n\r\namber so as to not miss a diagnosis\r\nSources: Literature; to: \r\nPMID: 29650765; 1x individual with SCAD and an NMD fs \r\n\r\nthis gene is constraint for LoF in gnomad v4 with only 2 hets for an NMD variant.\r\n\r\namber so as to not miss a diagnosis\r\nSources: Literature",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:55:26.653937+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nHowever, only a single patient found in literature\r\nPMID: 29650765; 1x individual with SCAD and an NMD fs \nSources: Literature; to: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nHowever, only a single patient found in literature\r\nPMID: 29650765; 1x individual with SCAD and an NMD fs \r\n\r\nthis gene is constraint for LoF in gnomad v4 with only 2 hets for an NMD variant.\r\n\r\namber so as to not miss a diagnosis\r\nSources: Literature",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:53:41.554742+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: YY1AP1 were set to ",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:53:36.873413+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.47",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: YY1AP1 as Amber List (moderate evidence)",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:53:36.859409+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.47",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: yy1ap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:53:29.385452+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: YY1AP1: Changed rating: AMBER; Changed publications: 33125268",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:53:18.965838+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: \r\nPMID: 33125268 \r\n1x individual with a canonical splice + 1x protein truncating variant. However, phasing could not be performed\r\n\r\nno other literature found \r\nSources: Literature; to: \r\nPMID: 33125268 \r\n1x individual with a canonical splice + 1x protein truncating variant. However, phasing could not be performed\r\n\r\nno other literature found \r\n\r\namber so as to not miss a diagnosis\r\nSources: Literature",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:53:03.457040+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nPMID: 33125268 was cited in paper above.\r\n1x individual with a canonical splice + 1x protein truncating variant. However, phasing could not be performed\r\n\r\nno other literature found \nSources: Literature; to: \r\nPMID: 33125268 \r\n1x individual with a canonical splice + 1x protein truncating variant. However, phasing could not be performed\r\n\r\nno other literature found \r\nSources: Literature",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:46:26.004184+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PTGIR were set to 32531060; 37979122",
"entity_name": "PTGIR",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:46:18.694068+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nPMID: 32531060; searched for 'rare' LoF variants in individuals with fibromuscular dysplasia. \r\nHowever, this gene is NOT LoF constraint in gnomad v4.\r\n200 hets for an NMD variant \nSources: Literature; to: PMID: 32531060; searched for 'rare' LoF variants in individuals with fibromuscular dysplasia. \r\nHowever, this gene is NOT LoF constraint in gnomad v4.\r\n200 hets for an NMD variant \r\n\r\nAll other papers cited PMID: 32531060\r\nSources: Literature",
"entity_name": "PTGIR",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:42:28.553903+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.45",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: TLN1 were set to 30888838; 37979122",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:42:19.360816+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: TLN1: Changed publications: 30888838, 36103205",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-08-08T16:42:07.265797+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nbut AMBER rating\r\n10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with unaffected heterozygous parents. No functional assays were conducted. \r\nSources: Literature; to: PMID: 30888838\r\n10x families with a single affected, all missense\r\n5x unknown inheritance\r\n5x inherited from n unaffected parent\r\n\r\n1x 2 generational fam with an unaffected obligate carrier, missense variant \r\n\r\nvariants reported and their counts in gnomad v4:\r\nAla2013Thr 1091 hets 1 hom\r\nArg297His 97 hets \r\nThr585Met 36 hets\r\nPro942Leu 62 hets\r\nAla1219Val 44 hets\r\nArg1241Trp 13 hets\r\nSer1333Thr absent\r\nVal1964Ile 185 hets\r\nThr2098Met 358 hets\r\nVal2440Glu absent\r\n\r\nPMID: 36103205\r\n2x individual however only 1 has a personal history of R-SCAD\r\nAla1574Val\r\n\r\nSources: Literature",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:57:23.351177+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:57:23.334031+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:57:17.502042+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.141",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, 300919 (3) to Intellectual developmental disorder, X-linked 99, MIM#300919",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:57:04.624801+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: USP9X were set to ",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:56:52.722429+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.139",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: X-linked dominant, females can be severely affected",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:56:52.690349+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.139",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:56:32.004374+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.138",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:55:14.898142+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.137",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: VLDLR as ready",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:55:14.879433+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.137",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Green List (High Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:55:10.392741+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.137",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) to Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome MIM#224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:54:22.600360+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.136",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: VLDLR were set to ",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:43:21.233155+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.135",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: WDR45B as ready",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:43:21.214140+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.135",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: wdr45b has been classified as Green List (High Evidence).",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2024-08-08T14:43:17.210206+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.135",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: WDR45B were set to ",
"entity_name": "WDR45B",
"entity_type": "gene"
}
]
}