{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=473","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=471","results":[{"created":"2024-04-04T18:13:14.841113+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: disp1 has been classified as Green List (High Evidence).","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T18:12:39.014246+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5750","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DISP1: Changed rating: GREEN","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T18:12:28.958233+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5750","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DISP1: Added comment: PMID: 38529886\r\n25 individuals from 20 unrelated families with a phenotype associated with mild holoprosencephaly (HPE).\r\nA total of 23 different variants were identified in DISP1 (missense, frameshift and nonsense).\r\n14 heterozygous individuals , 5 compound heterozygous individuals, 6 homozygous individuals (5 of the individuals were from 3 unrelated consanguineous families).\r\n\r\nHPE phenotype was also seen prenatally as one of the reported monoallelic individuals was a fetus at 20+6 GW prior to passing due to MTP.; Changed publications: 19184110, 26748417, 23542665, 38529886; Changed phenotypes: Holoprosencephaly (MONDO:0016296), DISP1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T18:09:38.012944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1663","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK4 as ready","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T18:09:37.997996+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1663","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock4 has been classified as Green List (High Evidence).","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T18:09:27.960337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1663","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DOCK4 as Green List (high evidence)","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T18:09:27.948243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1663","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock4 has been classified as Green List (High Evidence).","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T17:29:52.082486+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5750","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: DOCK4 were changed from  to DOCK4-related neurodevelopmental disorder (MONDO:0060490)","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T17:29:10.654875+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5749","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DOCK4 were set to ","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T17:28:44.174372+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.14","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DISP1 were set to 19184110; 26748417; 23542665","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T17:26:29.125235+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5748","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: DOCK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T17:26:12.250683+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T17:20:24.400312+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5747","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DOCK4 as Green List (high evidence)","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T17:20:24.380765+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5747","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dock4 has been classified as Green List (High Evidence).","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T17:19:26.683291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1662","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TRPV5 as ready","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-04T17:19:26.669350+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1662","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trpv5 has been classified as Red List (Low Evidence).","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-04T17:19:03.589509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1662","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TRPV5 were set to PMID: 38528055","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-04T17:18:40.474315+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DISP1 as Green List (high evidence)","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T17:18:40.462197+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: disp1 has been classified as Green List (High Evidence).","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T17:11:17.812887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1661","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TRPV5 as Red List (low evidence)","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-04T17:11:17.800383+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1661","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trpv5 has been classified as Red List (Low Evidence).","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-04T17:02:33.461029+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1660","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: TRPV5: Changed publications: PMID: 38528055, 14679186","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-04T17:02:19.700782+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1660","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Not a well-established gene-disease association. Has only been reported in one consanguineous family.\r\n\r\nPMID: 38528055\r\n3 individuals from the same family affected with hypercalciuria. \r\nBiallelic Met598Val variant was identified in the proband and his two affect sibs\r\n\r\nFunctional assay using WT and mutant plasmid vectors were transfected into HEK293T cells. The assay showed that the mutant vector had a non-functional TRPV5 channel as compared to the WT however no positive control was used. \nSources: Other; to: Not a well-established gene-disease association. Has only been reported in one consanguineous family.\r\n\r\nPMID: 38528055\r\n3 individuals from the same family affected with hypercalciuria. \r\nBiallelic Met598Val variant was identified in the proband and his two affect sibs\r\n\r\nFunctional assay using WT and mutant plasmid vectors were transfected into HEK293T cells. The assay showed that the mutant vector had a non-functional TRPV5 channel as compared to the WT however no positive control was used. \r\n\r\nPMID: 14679186\r\nTRPV5 knockout mice model was used to assess whether the abolishment of TRPV5 led to a disruption in Ca2+ handling.  The effects of the disruption in Ca2+ handling resulted in bone abnormalities in the mice and is likely the cause of idiopathic hypercalciuria. \r\n\r\nSources: Other","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-04T16:59:39.796662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1660","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: DOCK4 was added\ngene: DOCK4 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DOCK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DOCK4 were set to PMID: 38526744\nPhenotypes for gene: DOCK4 were set to DOCK4-related neurodevelopmental disorder (MONDO:0060490)\nReview for gene: DOCK4 was set to GREEN\nAdded comment: 7 unrelated individuals reported with heterozygous variants (missense or null variants) in DOCK4. The individuals either had ID or DD between mild and moderate with brain abnormalities. Two of the individuals are reportedly compound heterozygous. \r\n\r\nFunctional assay neuro-2A Dock4 knockout cells by using the Alt-R CRISPR-Cas9 system utilizing two different guide RNAs (ko1 and ko2) and one nonspecific control guide RNA (C: control). The assay depicted the loss of function mechanism in the presence of either p.Arg853Leu and p.Asp946_Lys1966delinsValSer* (described as 945VS). \nSources: Other","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T16:59:16.010926+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5746","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: 7 unrelated individuals reported with heterozygous variants (missense or null variants) in DOCK4. The individuals either had ID or DD between mild and moderate with brain abnormalities. \r\n\r\nFunctional assay neuro-2A Dock4 knockout cells by using the Alt-R CRISPR-Cas9 system utilizing two different guide RNAs (ko1 and ko2) and one nonspecific control guide RNA (C: control). The assay depicted the loss of function mechanism in the presence of either p.Arg853Leu and p.Asp946_Lys1966delinsValSer* (described as 945VS).; to: 7 unrelated individuals reported with heterozygous variants (missense or null variants) in DOCK4. The individuals either had ID or DD between mild and moderate with brain abnormalities. Two of the individuals are reportedly compound heterozygous.\r\n\r\nFunctional assay neuro-2A Dock4 knockout cells by using the Alt-R CRISPR-Cas9 system utilizing two different guide RNAs (ko1 and ko2) and one nonspecific control guide RNA (C: control). The assay depicted the loss of function mechanism in the presence of either p.Arg853Leu and p.Asp946_Lys1966delinsValSer* (described as 945VS).","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T16:53:41.877444+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5746","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Well-established gene-disease association\r\n\r\n7 unrelated individuals reported with heterozygous variants (missense or null variants) in DOCK4. The individuals either had ID or DD between mild and moderate with brain abnormalities. \r\n\r\nFunctional assay neuro-2A Dock4 knockout cells by using the Alt-R CRISPR-Cas9 system utilizing two different guide RNAs (ko1 and ko2) and one nonspecific control guide RNA (C: control). The assay depicted the loss of function mechanism in the presence of either p.Arg853Leu and p.Asp946_Lys1966delinsValSer* (described as 945VS).; to: 7 unrelated individuals reported with heterozygous variants (missense or null variants) in DOCK4. The individuals either had ID or DD between mild and moderate with brain abnormalities. \r\n\r\nFunctional assay neuro-2A Dock4 knockout cells by using the Alt-R CRISPR-Cas9 system utilizing two different guide RNAs (ko1 and ko2) and one nonspecific control guide RNA (C: control). The assay depicted the loss of function mechanism in the presence of either p.Arg853Leu and p.Asp946_Lys1966delinsValSer* (described as 945VS).","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T16:32:01.332356+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1660","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DISP1 were set to 19184110; 26748417; 23542665","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T16:31:33.468920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1659","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T16:31:03.594133+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1658","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DISP1 as Green List (high evidence)","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T16:31:03.579569+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1658","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: disp1 has been classified as Green List (High Evidence).","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T16:29:40.656497+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1657","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Well-establised gene disease association with differing mechanism of disease depending on the type of causative variant. \r\nMonoallelic truncating variants that resulted in haploinsufficiency in DISP1 led to mild HPE. However biallelic missense variants that results in a partial loss of function of DISP1 cause HPE as well.\r\n\r\nPMID: 38529886\r\n25 individuals from 20 unrelated families with a phenotype associated with mild holoprosencephaly (HPE). \r\nA total of 23 different variants were identified in DISP1 (missense, frameshift and nonsense).\r\n14 heterozygous individuals , 5 compound heterozygous individuals, 6 homozygous individuals (5 of the individuals were from 3 unrelated consanguineous families).\r\n\r\nHPE phenotype was also seen prenatally as one of the reported monoallelic individuals was a fetus at 20+6 GW prior to passing due to MTP. \r\n\r\n; to: Gene disease association with differing mechanism of disease depending on the type of causative variant. \r\nMonoallelic truncating variants that resulted in haploinsufficiency in DISP1 led to mild HPE. However biallelic missense variants that results in a partial loss of function of DISP1 cause HPE as well.\r\n\r\nPMID: 38529886\r\n25 individuals from 20 unrelated families with a phenotype associated with mild holoprosencephaly (HPE). \r\nA total of 23 different variants were identified in DISP1 (missense, frameshift and nonsense).\r\n14 heterozygous individuals , 5 compound heterozygous individuals, 6 homozygous individuals (5 of the individuals were from 3 unrelated consanguineous families).\r\n\r\nHPE phenotype was also seen prenatally as one of the reported monoallelic individuals was a fetus at 20+6 GW prior to passing due to MTP. \r\n\r\n","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T16:21:42.118516+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1657","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Well-establised gene disease association with differing mechanism of disease depending on the type of causative variant. \r\n\r\nPMID: 38529886\r\n25 individuals from 20 unrelated families with a phenotype associated with mild holoprosencephaly (HPE). \r\nA total of 23 different variants were identified in DISP1 (missense, frameshift and nonsense).\r\n\r\nMonoallelic truncating variants that resulted in haploinsufficiency in DISP1 led to mild HPE. However biallelic missense variants that results in a partial loss of function f DISP1 cause HPE as well.; to: Well-establised gene disease association with differing mechanism of disease depending on the type of causative variant. \r\nMonoallelic truncating variants that resulted in haploinsufficiency in DISP1 led to mild HPE. However biallelic missense variants that results in a partial loss of function of DISP1 cause HPE as well.\r\n\r\nPMID: 38529886\r\n25 individuals from 20 unrelated families with a phenotype associated with mild holoprosencephaly (HPE). \r\nA total of 23 different variants were identified in DISP1 (missense, frameshift and nonsense).\r\n14 heterozygous individuals , 5 compound heterozygous individuals, 6 homozygous individuals (5 of the individuals were from 3 unrelated consanguineous families).\r\n\r\nHPE phenotype was also seen prenatally as one of the reported monoallelic individuals was a fetus at 20+6 GW prior to passing due to MTP. \r\n\r\n","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-04T15:05:23.975815+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.225","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: FRYL as ready","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T15:05:23.963142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.225","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fryl has been classified as Amber List (Moderate Evidence).","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T15:05:08.265091+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.225","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FRYL as Amber List (moderate evidence)","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T15:05:08.254192+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.225","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fryl has been classified as Amber List (Moderate Evidence).","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T15:04:54.617934+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.224","user_name":"Ain Roesley","item_type":"entity","text":"gene: FRYL was added\ngene: FRYL was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FRYL were set to 38479391\nPhenotypes for gene: FRYL were set to neurodevelopmental disorder MONDO:0700092, FRYL-related\nReview for gene: FRYL was set to AMBER\ngene: FRYL was marked as current diagnostic\nAdded comment: 14 individuals, all de novo except 1x duo testing (not present in tested father)\r\n5x missense + 8x fs/stopgain + 1x canonical splice\r\n\r\n7/14 with cardiac anomalies\r\n\r\nOf interest to this panel: 1x tetralogy of fallot (TOF) with pulmonary atresia (PA), 2x dextrocardia, 1x hypoplastic left heart syndrome\r\n\r\nOther reported features AVSD, VSD, PDA \nSources: Literature","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:57:06.075464+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.416","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FRYL as Green List (high evidence)","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:57:06.053850+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.416","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fryl has been classified as Green List (High Evidence).","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:55:17.110944+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.415","user_name":"Ain Roesley","item_type":"entity","text":"gene: FRYL was added\ngene: FRYL was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FRYL were set to 38479391\nPhenotypes for gene: FRYL were set to neurodevelopmental disorder MONDO:0700092, FRYL-related\nReview for gene: FRYL was set to GREEN\ngene: FRYL was marked as current diagnostic\nAdded comment: 14 individuals, all de novo except 1x duo testing (not present in tested father)\r\n5x missense + 8x fs/stopgain + 1x canonical splice\r\n\r\n13/13 with ID/DD (1x deceased)\r\n4/14 seizures\r\n7/14 with cardiac anomalies such as PDA, TOF, VSD, dextrocardia\r\n\r\n1x also has a de novo fs variant in SF3B4\r\n1x also has a de novo stop gain variant in SDHA\r\n\r\nfunctional studies using flies were performed \nSources: Literature","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:49:17.661596+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5746","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: FRYL as ready","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:49:17.649643+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5746","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fryl has been classified as Green List (High Evidence).","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:49:11.628382+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5746","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FRYL as Green List (high evidence)","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:49:11.612955+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5746","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fryl has been classified as Green List (High Evidence).","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:48:28.789883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1657","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: FRYL as ready","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T14:48:28.776406+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1657","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fryl has been classified as Green List (High Evidence).","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T13:59:46.841630+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5745","user_name":"Ain Roesley","item_type":"entity","text":"gene: FRYL was added\ngene: FRYL was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FRYL were set to 38479391\nPhenotypes for gene: FRYL were set to neurodevelopmental disorder MONDO:0700092, FRYL-related\nReview for gene: FRYL was set to GREEN\ngene: FRYL was marked as current diagnostic\nAdded comment: 14 individuals, all de novo except 1x duo testing (not present in tested father)\r\n5x missense + 8x fs/stopgain + 1x canonical splice\r\n\r\n13/13 with ID/DD (1x deceased)\r\n4/14 seizures\r\n7/14 with cardiac anomalies such as PDA, TOF, VSD, dextrocardia\r\n\r\n1x also has a de novo fs variant in SF3B4\r\n1x also has a de novo stop gain variant in SDHA\r\n\r\nfunctional studies using flies were performed \nSources: Literature","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T13:59:30.291755+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1657","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FRYL as Green List (high evidence)","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T13:59:30.253517+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1657","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fryl has been classified as Green List (High Evidence).","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T13:58:34.921154+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1656","user_name":"Ain Roesley","item_type":"entity","text":"gene: FRYL was added\ngene: FRYL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FRYL were set to 38479391\nPhenotypes for gene: FRYL were set to neurodevelopmental disorder MONDO:0700092, FRYL-related\nReview for gene: FRYL was set to GREEN\ngene: FRYL was marked as current diagnostic\nAdded comment: 14 individuals, all de novo except 1x duo testing (not present in tested father) \r\n5x missense + 8x fs/stopgain + 1x canonical splice \r\n\r\n13/13 with ID/DD (1x deceased)\r\n4/14 seizures\r\n7/14 with cardiac anomalies such as PDA, TOF, VSD, dextrocardia\r\n\r\n1x also has a de novo fs variant in SF3B4\r\n1x also has a de novo stop gain variant in SDHA \r\n\r\nfunctional studies using flies were performed \nSources: Literature","entity_name":"FRYL","entity_type":"gene"},{"created":"2024-04-04T13:49:34.952048+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5744","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KCNB2 as ready","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:49:34.942189+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5744","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnb2 has been classified as Green List (High Evidence).","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:49:16.925800+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5744","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KCNB2 as Green List (high evidence)","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:49:16.913762+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5744","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnb2 has been classified as Green List (High Evidence).","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:48:20.070967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1655","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KCNB2 as ready","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:48:20.056875+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1655","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnb2 has been classified as Green List (High Evidence).","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:48:09.191833+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5743","user_name":"Ain Roesley","item_type":"entity","text":"gene: KCNB2 was added\ngene: KCNB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNB2 were set to 38503299\nPhenotypes for gene: KCNB2 were set to neurodevelopmental disorder MONDO:0700092, KCNB2-related\nReview for gene: KCNB2 was set to GREEN\ngene: KCNB2 was marked as current diagnostic\nAdded comment: 7 individuals, all missense\r\n5 de novo + 1x inherited from father who has hypotonia + 1x from asymptomatic father\r\n\r\n2/5 MRI anomalies\r\n2/5 cardiac anomalies\r\n2/7 urogenital anomalies\r\n7/7 with ID\r\n2/7 epilepsy\r\n2/7 hypotonia\r\nSources: Literature \nSources: Literature","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:48:07.927360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1655","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KCNB2 as Green List (high evidence)","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:48:07.911580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1655","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnb2 has been classified as Green List (High Evidence).","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:47:38.811756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1654","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 7 individuals, all missense\r\n1x from asymptomatic father\r\n\r\n2/5 MRI anomalies\r\n2/5 cardiac anomalies\r\n2/7 urogenital anomalies\r\n7/7 with ID\r\n2/7 epilepsy\r\n2/7 hypotonia \nSources: Literature; to: 7 individuals, all missense\r\n5 de novo + 1x inherited from father who has hypotonia + 1x from asymptomatic father\r\n\r\n2/5 MRI anomalies\r\n2/5 cardiac anomalies\r\n2/7 urogenital anomalies\r\n7/7 with ID\r\n2/7 epilepsy\r\n2/7 hypotonia\r\nSources: Literature","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:44:58.208687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1654","user_name":"Ain Roesley","item_type":"entity","text":"gene: KCNB2 was added\ngene: KCNB2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNB2 were set to 38503299\nPhenotypes for gene: KCNB2 were set to neurodevelopmental disorder MONDO:0700092, KCNB2-related\nReview for gene: KCNB2 was set to GREEN\ngene: KCNB2 was marked as current diagnostic\nAdded comment: 7 individuals, all missense\r\n1x from asymptomatic father\r\n\r\n2/5 MRI anomalies\r\n2/5 cardiac anomalies\r\n2/7 urogenital anomalies\r\n7/7 with ID\r\n2/7 epilepsy\r\n2/7 hypotonia \nSources: Literature","entity_name":"KCNB2","entity_type":"gene"},{"created":"2024-04-04T13:29:18.723236+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5742","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: DOCK4: Changed rating: GREEN","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-04T13:26:57.827249+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.33","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2024-04-04T11:06:35.503744+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.223","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAP3K20: Added comment: PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20.; Changed publications: 38451290; Changed phenotypes: Syndromic disease, MONDO:0002254, MAP3K20-related, Centronuclear myopathy 6 with fiber-type disproportion MIM#617760, Split-foot malformation with mesoaxial polydactyly MIM#616890; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:04:12.139625+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP3K20 as ready","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:04:12.125719+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:04:07.658276+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP3K20 as Green List (high evidence)","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:04:07.636271+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:03:59.405861+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP3K20 was added\ngene: MAP3K20 was added to Ectodermal Dysplasia. Sources: Literature\nMode of inheritance for gene: MAP3K20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP3K20 were set to 38451290\nPhenotypes for gene: MAP3K20 were set to Syndromic disease, MONDO:0002254, MAP3K20-related\nReview for gene: MAP3K20 was set to GREEN\nAdded comment: PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. \nSources: Literature","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:02:50.943951+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP3K20 as ready","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:02:50.929459+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:02:46.830504+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP3K20 as Green List (high evidence)","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:02:46.816866+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:02:11.152928+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP3K20 was added\ngene: MAP3K20 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: MAP3K20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP3K20 were set to 38451290\nPhenotypes for gene: MAP3K20 were set to Syndromic disease, MONDO:0002254, MAP3K20-related\nReview for gene: MAP3K20 was set to GREEN\nAdded comment: PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. \nSources: Literature","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:01:38.491589+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP3K20 as ready","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:01:38.481369+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:01:37.795404+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP3K20 as Green List (high evidence)","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:01:37.776076+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k20 has been classified as Green List (High Evidence).","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T11:00:40.514559+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP3K20 was added\ngene: MAP3K20 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: MAP3K20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP3K20 were set to 38451290\nPhenotypes for gene: MAP3K20 were set to Syndromic disease, MONDO:0002254, MAP3K20-related\nReview for gene: MAP3K20 was set to GREEN\nAdded comment: PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. \nSources: Literature","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T10:59:15.596847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP3K20 were changed from Centronuclear myopathy 6 with fiber-type disproportion MIM#617760; Split-foot malformation with mesoaxial polydactyly MIM#616890 to Syndromic disease, MONDO:0002254, MAP3K20-related; Centronuclear myopathy 6 with fiber-type disproportion MIM#617760; Split-foot malformation with mesoaxial polydactyly MIM#616890","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T10:58:55.759950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1652","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP3K20 were set to 27816943; 26755636","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T10:58:34.027817+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1651","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAP3K20 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T10:58:13.321681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1650","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451290; Phenotypes: Syndromic disease, MONDO:0002254, MAP3K20-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP3K20","entity_type":"gene"},{"created":"2024-04-04T10:42:38.559119+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.257","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: SASS6 were set to 24951542; 30639237; 38501757; 36739862","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:42:16.233846+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.256","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: SASS6 were set to 24951542; 30639237","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:42:14.212215+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1650","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PLXNB2 as Green List (high evidence)","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T10:42:14.196375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1650","user_name":"Chirag Patel","item_type":"entity","text":"Gene: plxnb2 has been classified as Green List (High Evidence).","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T10:41:41.019864+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.256","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: SASS6 as Green List (high evidence)","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:41:40.992837+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.256","user_name":"Ain Roesley","item_type":"entity","text":"Gene: sass6 has been classified as Green List (High Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:41:33.793070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1649","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T10:41:33.773749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1649","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T10:41:21.780569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.223","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: SASS6 were set to 24951542; 30639237","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:41:20.199280+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1649","user_name":"Chirag Patel","item_type":"entity","text":"gene: PLXNB2 was added\ngene: PLXNB2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLXNB2 were set to PMID: 38458752\nPhenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related\nReview for gene: PLXNB2 was set to GREEN\ngene: PLXNB2 was marked as current diagnostic\nAdded comment: 8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease.\r\n\r\nPLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice. \nSources: Literature","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T10:41:11.520294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.223","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: SASS6 as Green List (high evidence)","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:41:11.501605+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.223","user_name":"Ain Roesley","item_type":"entity","text":"Gene: sass6 has been classified as Green List (High Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:41:01.886933+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.255","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38501757, 36739862; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:40:47.194513+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.222","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38501757, 36739862; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:40:46.141045+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1648","user_name":"Chirag Patel","item_type":"entity","text":"gene: CEP295 was added\ngene: CEP295 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP295 were set to PMID: 38154379\nPhenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767\nReview for gene: CEP295 was set to GREEN\ngene: CEP295 was marked as current diagnostic\nAdded comment: 4 children from 2 unrelated families with Seckel-like syndrome - severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes. WES identified biallelic pathogenic variants in CEP295 gene (p(Q544∗) and p(R1520∗); p(R55Efs∗49) and p(P562L)).\r\n\r\nPatient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying mechanisms. Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Loss of CEP295 caused extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts. \nSources: Literature","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T10:40:36.116959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1647","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: SASS6 were set to 24951542; 30639237","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:40:25.405409+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1647","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: SASS6 as Green List (high evidence)","entity_name":"SASS6","entity_type":"gene"}]}