{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1019","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1017","results":[{"created":"2022-01-28T14:23:16.442323+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2854","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCLT1 as ready","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:23:16.427363+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sclt1 has been classified as Green List (High Evidence).","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:23:12.805645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCLT1 were changed from Senior-L ken Syndrome; No OMIM phenotype; Oro-facio-digital syndrome type IX to Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:22:58.111620+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2853","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCLT1 were set to 28486600; 30425282; 23348840; 24285566; 28005958","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:22:38.427360+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2852","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCLT1 as Green List (high evidence)","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:22:38.416142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2852","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sclt1 has been classified as Green List (High Evidence).","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:22:26.303509+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2851","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Established ciliopathy gene but no clear association with ciliopathy/JS-type structural brain abnormalities.; to: Established ciliopathy gene.","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:22:15.635870+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2851","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCLT1: Changed rating: GREEN","entity_name":"SCLT1","entity_type":"gene"},{"created":"2022-01-28T14:21:35.939142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SASS6 as ready","entity_name":"SASS6","entity_type":"gene"},{"created":"2022-01-28T14:21:35.929210+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sass6 has been classified as Amber List (Moderate Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2022-01-28T14:21:29.297639+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2851","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASS6 were changed from ?Microcephaly 14, primary, autosomal recessive 616402 to Microcephaly 14, primary, autosomal recessive, MIM# 616402","entity_name":"SASS6","entity_type":"gene"},{"created":"2022-01-28T14:21:15.337828+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2850","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SASS6 were set to 24951542","entity_name":"SASS6","entity_type":"gene"},{"created":"2022-01-28T14:20:49.906343+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2849","user_name":"Krithika Murali","item_type":"entity","text":"gene: HS2ST1 was added\ngene: HS2ST1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HS2ST1 were set to 33159882\nPhenotypes for gene: HS2ST1 were set to Neurofacioskeletal syndrome with or without renal agenesis-MIM#619194; multiple congenital anomalies; arthrogryposis\nReview for gene: HS2ST1 was set to GREEN\nAdded comment: PMID 33159882 - Scheenberger et al 2020 \r\n\r\nBiallelic HS2ST1 variants associated with disease reported in 4 affected individuals from 3 unrelated families, including one affected fetus with arthrogryposis, skeletal anomalies, bilateral renal agenesis.  Other congenital anomalies reported include agenesis or hypoplasia of the corpus callosum. \nSources: Literature","entity_name":"HS2ST1","entity_type":"gene"},{"created":"2022-01-28T14:20:33.903069+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SACS as ready","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:20:33.893099+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sacs has been classified as Red List (Low Evidence).","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:20:29.172229+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SACS were changed from SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:20:16.380799+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2848","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SACS were set to ","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:19:56.016563+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2847","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SACS as Red List (low evidence)","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:19:56.004566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2847","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sacs has been classified as Red List (Low Evidence).","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:19:25.254960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2846","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID has only been reported in a minority of individuals; predominantly a motor phenotype.; to: Progressive condition, onset in infancy/childhood.","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:19:07.669662+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2846","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SACS: Changed rating: RED","entity_name":"SACS","entity_type":"gene"},{"created":"2022-01-28T14:00:04.914393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2846","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy.  Predominantly adult onset phenotype, AD inheritance.  4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported which are features amenable to antenatal detection.  \r\n\r\nPMID 29858533 Kiselev et al reported  4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis.\r\n\r\nx1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2\r\n\r\n x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable. \r\n\r\nx1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo\r\n\r\nx1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing.\r\n\r\n---\r\nOther cases of interest\r\n\r\nPMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally.  Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant.\r\n\r\nPMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents.  Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation.  This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded. \nSources: Literature; to: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy.  Predominantly adult onset phenotype, AD inheritance.  4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported.  These features/complications of these features are amenable to antenatal detection.  \r\n\r\nPMID 29858533 Kiselev et al reported  4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis.\r\n\r\nx1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2\r\n\r\n x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable. \r\n\r\nx1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo\r\n\r\nx1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing.\r\n\r\n---\r\nOther cases of interest\r\n\r\nPMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally.  Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant.\r\n\r\nPMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents.  Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation.  This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded. \r\nSources: Literature","entity_name":"FLNC","entity_type":"gene"},{"created":"2022-01-28T13:54:44.298231+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2846","user_name":"Krithika Murali","item_type":"entity","text":"gene: FLNC was added\ngene: FLNC was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLNC were set to 29858533; 30260051; 32516863\nPhenotypes for gene: FLNC were set to Arthrogryposis; congenital myopathy; Cardiomyopathy, familial restrictive 5 - MIM #617047; Cardiomyopathy, familial hypertrophic, 26 -MIM# 617047; Myopathy, distal, 4 - #614065; Myopathy, myofibrillar, 5 - MIM#609524\nReview for gene: FLNC was set to GREEN\nAdded comment: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy.  Predominantly adult onset phenotype, AD inheritance.  4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported which are features amenable to antenatal detection.  \r\n\r\nPMID 29858533 Kiselev et al reported  4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis.\r\n\r\nx1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2\r\n\r\n x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable. \r\n\r\nx1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo\r\n\r\nx1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing.\r\n\r\n---\r\nOther cases of interest\r\n\r\nPMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally.  Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant.\r\n\r\nPMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents.  Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation.  This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded. \nSources: Literature","entity_name":"FLNC","entity_type":"gene"},{"created":"2022-01-28T11:19:11.614955+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2846","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2022-01-28T11:19:11.602494+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2846","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mks1 has been classified as Green List (High Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2022-01-28T11:19:08.261645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2846","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from MECKEL SYNDROME TYPE 1; BARDET-BIEDL SYNDROME TYPE 13 to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571","entity_name":"MKS1","entity_type":"gene"},{"created":"2022-01-28T11:16:54.788753+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2845","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MKKS as ready","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-01-28T11:16:54.773972+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2845","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mkks has been classified as Green List (High Evidence).","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-01-28T11:16:43.986868+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2845","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MKKS were changed from BARDET-BIEDL SYNDROME TYPE 6; MCKUSICK-KAUFMAN SYNDROME to McKusick-Kaufman syndrome, MIM# 236700; Bardet-Biedl syndrome 6, MIM# 605231","entity_name":"MKKS","entity_type":"gene"},{"created":"2022-01-28T11:12:37.372142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2844","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MGP as ready","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:12:37.360531+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2844","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mgp has been classified as Green List (High Evidence).","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:12:31.150367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2844","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MGP were changed from KEUTEL SYNDROME to Keutel syndrome, MIM #245150","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:11:54.638755+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MGP","entity_type":"gene"},{"created":"2022-01-28T11:06:41.285708+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MTM1 as ready","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:06:41.274191+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mtm1 has been classified as Green List (High Evidence).","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:06:22.928227+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2843","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MTM1 were changed from MYOTUBULAR MYOPATHY, X-LINKED to Myotubular myopathy, X-linked, MIM# 310400","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:05:16.026651+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MTM1","entity_type":"gene"},{"created":"2022-01-28T11:00:56.173058+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MFSD2A as ready","entity_name":"MFSD2A","entity_type":"gene"},{"created":"2022-01-28T11:00:56.163226+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mfsd2a has been classified as Green List (High Evidence).","entity_name":"MFSD2A","entity_type":"gene"},{"created":"2022-01-28T11:00:48.160875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2842","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MFSD2A were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486","entity_name":"MFSD2A","entity_type":"gene"},{"created":"2022-01-28T10:57:32.147050+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC9 as ready","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:32.136666+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc9 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:26.886310+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCC9 as Amber List (moderate evidence)","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:26.876189+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc9 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:57:20.688839+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MFRP as ready","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:20.678454+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mfrp has been classified as Red List (Low Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:14.807163+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: MFRP as Red List (low evidence)","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:14.800901+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment on list classification: Ocular anomalies not detectable on US. No extra-ocular fetal anomalies reported. Marked as Red for fetal anomalies gene panel","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:14.769134+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2841","user_name":"Alison Yeung","item_type":"entity","text":"Gene: mfrp has been classified as Red List (Low Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:57:07.576273+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC9 was added\ngene: ABCC9 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCC9 were set to 31575858\nPhenotypes for gene: ABCC9 were set to Intellectual disability and myopathy syndrome, MIM# 619719\nReview for gene: ABCC9 was set to AMBER\nAdded comment: PMID 31575858: Report of 6 cases from 2 families, all with homozygous c.1320+1G>A. Phenotype of mild ID, similar facies, myopathy, cerebral white matter hyperintensities, and cardiac systolic dysfunction in the oldest cases. \r\n'This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function'. \nSources: Literature","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:55:37.752372+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"changed review comment from: Bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Ocular abnormalities not detectable on fetal US and no association with extra-ocular fetal anomalies.; to: Bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Ocular abnormalities not detectable on fetal US and no association with extra-ocular fetal anomalies.","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:55:26.866722+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MFRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MFRP","entity_type":"gene"},{"created":"2022-01-28T10:54:42.896342+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC9 as ready","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:54:42.886920+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc9 has been classified as Green List (High Evidence).","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:54:38.869282+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC9 were changed from  to Intellectual disability and myopathy syndrome, MIM# 619719; Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:53:54.383043+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4469","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCC9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:53:26.613873+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4468","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31575858, 22610116, 22608503; Phenotypes: Intellectual disability and myopathy syndrome, MIM# 619719, Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:50:58.833507+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10808","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCC9 were changed from Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; mild ID, similar facies, myopathy, cerebral white matter hyperintensities; cardiac systolic dysfunction to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; Intellectual disability and myopathy syndrome, MIM# 619719","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:50:22.899203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10807","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:50:02.304337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10806","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ABCC9: Changed phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850, Cantu syndrome, Intellectual disability and myopathy syndrome, MIM# 619719","entity_name":"ABCC9","entity_type":"gene"},{"created":"2022-01-28T10:17:52.428616+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: IQCB1 as ready","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:17:52.423282+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment when marking as ready: Not associated with fetal anomalies. Marked as RED for fetal anomalies panel","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:17:52.399966+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iqcb1 has been classified as Red List (Low Evidence).","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:16:58.330488+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: IQCB1 as Red List (low evidence)","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:16:58.321090+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2840","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iqcb1 has been classified as Red List (Low Evidence).","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:16:37.152603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2839","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IQCB1","entity_type":"gene"},{"created":"2022-01-28T10:10:40.239391+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2839","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: IARS were changed from Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, OMIM# 617093","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T10:09:59.403481+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T10:07:19.408241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: IARS as ready","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T10:07:19.396674+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Gene: iars has been classified as Green List (High Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2022-01-28T08:53:04.770338+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CTU2 as ready","entity_name":"CTU2","entity_type":"gene"},{"created":"2022-01-28T08:53:04.746565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ctu2 has been classified as Green List (High Evidence).","entity_name":"CTU2","entity_type":"gene"},{"created":"2022-01-27T17:04:24.846984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNI2 as ready","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:04:24.834444+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni2 has been classified as Green List (High Evidence).","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:04:21.195250+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B 601680 to Arthrogryposis multiplex congenita, distal, type 2B MIM#601680","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:03:19.508149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2837","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNI2 were set to ","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:03:07.925114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2836","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNNI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:02:56.136683+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility demonstrated for at least two variants.; to: Gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility demonstrated for at least two variants.\r\n\r\nPerinatal presentation.","entity_name":"TNNI2","entity_type":"gene"},{"created":"2022-01-27T17:01:37.016371+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNT1 as ready","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T17:01:37.004393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnnt1 has been classified as Green List (High Evidence).","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T17:01:33.157376+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2835","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNT1 were changed from Nemaline myopathy, Amish type 605355 to Nemaline myopathy 5, Amish type, MIM# 605355","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T16:59:44.120300+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2834","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNT1 were set to ","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-01-27T14:39:14.820076+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2833","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP5 were set to ","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:38:27.036993+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10806","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACP5 were changed from  to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:37:31.588797+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10805","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP5 were set to ","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:37:11.520654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10804","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACP5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T14:36:28.164066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10803","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACP2 were changed from  to Lysosomal acid phosphatase deficiency, MIM# 200950","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T14:36:05.723458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10802","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP2 were set to ","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T14:35:47.235454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10801","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T14:34:37.103566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2832","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACAN were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800","entity_name":"ACAN","entity_type":"gene"},{"created":"2022-01-27T14:34:23.839813+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2831","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACAN were set to ","entity_name":"ACAN","entity_type":"gene"},{"created":"2022-01-27T14:33:53.212831+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:33:53.199772+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:33:16.919529+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:33:16.908650+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T14:32:32.126863+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3R5 as ready","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:32:32.115912+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r5 has been classified as Red List (Low Evidence).","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:32:29.853837+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3R5 were changed from  to Ataxia-oculomotor apraxia 3, OMIM #615217","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:32:05.633093+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIK3R5 were set to ","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T14:31:36.370663+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3R5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIK3R5","entity_type":"gene"}]}