{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1111","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1109","results":[{"created":"2021-11-30T12:24:33.346153+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALG13: Changed rating: AMBER","entity_name":"ALG13","entity_type":"gene"},{"created":"2021-11-30T12:23:34.147036+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG11 as ready","entity_name":"ALG11","entity_type":"gene"},{"created":"2021-11-30T12:23:34.137626+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg11 has been classified as Amber List (Moderate Evidence).","entity_name":"ALG11","entity_type":"gene"},{"created":"2021-11-30T12:23:24.240980+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG11 were changed from ALG11-CDG to Congenital disorder of glycosylation, type Ip, MIM# 613661","entity_name":"ALG11","entity_type":"gene"},{"created":"2021-11-30T12:23:06.755663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems; to: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems\r\n\r\nOnset is in first year of life, microcephaly rarely reported.","entity_name":"ALG11","entity_type":"gene"},{"created":"2021-11-30T12:22:30.697618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALG11: Changed rating: AMBER","entity_name":"ALG11","entity_type":"gene"},{"created":"2021-11-30T12:20:25.926220+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPKAPK5 as ready","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:20:25.917268+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkapk5 has been classified as Green List (High Evidence).","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:20:21.046339+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPKAPK5 as Green List (high evidence)","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:20:21.035713+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkapk5 has been classified as Green List (High Evidence).","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:20:01.356347+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.825","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAPKAPK5 was added\ngene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAPKAPK5 were set to 33442026\nPhenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic\nReview for gene: MAPKAPK5 was set to GREEN\nAdded comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.\r\n\r\nPatient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. \nSources: Expert Review","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:19:45.876145+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPKAPK5 as ready","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:19:45.865479+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkapk5 has been classified as Green List (High Evidence).","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:19:42.087813+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPKAPK5 as Green List (high evidence)","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:19:42.076946+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkapk5 has been classified as Green List (High Evidence).","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:18:33.795115+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAPKAPK5 was added\ngene: MAPKAPK5 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAPKAPK5 were set to 33442026\nPhenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic\nReview for gene: MAPKAPK5 was set to GREEN\nAdded comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.\r\n\r\nPatient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. \nSources: Expert Review","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T12:16:31.910255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9952","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T12:16:13.087903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9951","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NADSYN1: Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077, Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T12:15:49.532052+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T12:15:24.417242+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T12:15:22.903422+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NADSYN1: Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077, Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T12:14:47.396059+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.824","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NADSYN1 as ready","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T12:14:47.385743+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.824","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T12:14:42.672322+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.824","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NADSYN1 were set to ","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T11:55:19.512850+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.823","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GNS","entity_type":"gene"},{"created":"2021-11-30T11:31:58.937145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9951","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRHL3: Rating: ; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GRHL3","entity_type":"gene"},{"created":"2021-11-30T11:31:58.923777+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.823","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GRHL3","entity_type":"gene"},{"created":"2021-11-30T11:18:22.211864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9951","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DMC1 as ready","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:18:22.201164+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9951","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmc1 has been classified as Green List (High Evidence).","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:14:03.766454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9951","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DMC1 as Green List (high evidence)","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:14:03.740044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9951","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmc1 has been classified as Green List (High Evidence).","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:13:17.968412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9950","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DMC1 was added\ngene: DMC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953; 18166824\nPhenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia\nReview for gene: DMC1 was set to GREEN\nAdded comment: PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family. Further homozygous knockout mice study demonstrated total failure of follicle development and spermatogenesis in male mice.\r\nPMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.\r\nPMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease\r\nPMID: 9660954, 9660953 - both male and female knockout mice are sterile \nSources: Literature","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:11:40.165113+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: DMC1: Changed publications: 34794894, 29331980, 9660954, 9660953, 18166824","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:10:58.874729+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DMC1 as ready","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:10:58.863556+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmc1 has been classified as Amber List (Moderate Evidence).","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:10:50.904232+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DMC1 as Amber List (moderate evidence)","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:10:50.894988+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmc1 has been classified as Amber List (Moderate Evidence).","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:09:59.900618+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.244","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DMC1 was added\ngene: DMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953\nPhenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia\nReview for gene: DMC1 was set to AMBER\nAdded comment: 1 case with POI and 1 family with diminished ovarian reserve rather than POI, and a supporting mouse model\r\nPMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family.\r\nPMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.\r\nPMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease\r\nPMID: 9660954, 9660953 - both male and female knockout mice are sterile. \nSources: Literature","entity_name":"DMC1","entity_type":"gene"},{"created":"2021-11-30T11:08:32.222692+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.823","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GRIP1","entity_type":"gene"},{"created":"2021-11-30T11:08:30.988925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9949","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GRIP1","entity_type":"gene"},{"created":"2021-11-30T10:55:03.056851+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9949","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GTPBP3","entity_type":"gene"},{"created":"2021-11-30T10:54:16.329027+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.823","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GTPBP3","entity_type":"gene"},{"created":"2021-11-30T10:21:47.301438+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.243","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C14orf39 as Green List (high evidence)","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-11-30T10:21:47.289838+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.243","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c14orf39 has been classified as Green List (High Evidence).","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-11-30T10:21:34.184914+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.242","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: 34718620, 33508233, 27796301; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-11-30T09:59:31.757124+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9949","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CPEB1 as ready","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:59:31.747263+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9949","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cpeb1 has been classified as Amber List (Moderate Evidence).","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:54:00.780760+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9949","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CPEB1 as Amber List (moderate evidence)","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:54:00.768834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9949","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cpeb1 has been classified as Amber List (Moderate Evidence).","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:53:18.312174+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9948","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CPEB1 was added\ngene: CPEB1 was added to Mendeliome. Sources: Literature\nSV/CNV tags were added to gene: CPEB1.\nMode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780\nPhenotypes for gene: CPEB1 were set to Primary ovarian insufficiency\nReview for gene: CPEB1 was set to AMBER\nAdded comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.\r\nPMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.\r\nPMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1\r\nPMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.\r\nPMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes \nSources: Literature","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:51:37.416117+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.242","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CPEB1 as ready","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:51:37.406389+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.242","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cpeb1 has been classified as Amber List (Moderate Evidence).","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:51:31.566494+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.242","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CPEB1 as Amber List (moderate evidence)","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:51:31.556965+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.242","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cpeb1 has been classified as Amber List (Moderate Evidence).","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:51:18.069762+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.241","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CPEB1 was added\ngene: CPEB1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nSV/CNV tags were added to gene: CPEB1.\nMode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780\nPhenotypes for gene: CPEB1 were set to Primary ovarian insufficiency\nReview for gene: CPEB1 was set to AMBER\nAdded comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.\r\nPMID: 33095795  - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.\r\nPMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1\r\nPMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.\r\nPMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes \nSources: Literature","entity_name":"CPEB1","entity_type":"gene"},{"created":"2021-11-30T09:45:10.991115+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.823","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NADSYN1 as Green List (high evidence)","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:45:10.980645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.823","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:45:00.393634+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883644; Phenotypes: Multiple congenital abnormalities, absent kidneys, cardiac, limb, vertebral; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:39:41.171251+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NADSYN1 as ready","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:39:41.161779+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:39:12.637236+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NADSYN1 as Green List (high evidence)","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:39:12.627094+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nadsyn1 has been classified as Green List (High Evidence).","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:37:57.328085+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NADSYN1 was added\ngene: NADSYN1 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NADSYN1 were set to 31883644\nPhenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral\nReview for gene: NADSYN1 was set to GREEN\nAdded comment: Five individuals from four unrelated families. \nSources: Expert Review","entity_name":"NADSYN1","entity_type":"gene"},{"created":"2021-11-30T09:36:09.898093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9947","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD44 as ready","entity_name":"CD44","entity_type":"gene"},{"created":"2021-11-30T09:36:09.887288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9947","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd44 has been classified as Red List (Low Evidence).","entity_name":"CD44","entity_type":"gene"},{"created":"2021-11-30T09:35:59.743749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9947","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD44 were changed from  to [Blood group, Indian system] 609027","entity_name":"CD44","entity_type":"gene"},{"created":"2021-11-30T09:35:38.055754+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9946","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD44 as Red List (low evidence)","entity_name":"CD44","entity_type":"gene"},{"created":"2021-11-30T09:35:38.045268+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9946","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd44 has been classified as Red List (Low Evidence).","entity_name":"CD44","entity_type":"gene"},{"created":"2021-11-30T09:35:19.855809+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9945","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Indian system] 609027; Mode of inheritance: None","entity_name":"CD44","entity_type":"gene"},{"created":"2021-11-30T09:31:28.799519+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPKAPK5 were set to 3344202","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T09:31:03.321686+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPKAPK5: Changed publications: 33442026","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T09:30:44.053487+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9945","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPKAPK5 were set to 3344202","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T09:30:19.899642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9944","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPKAPK5: Changed publications: 33442026","entity_name":"MAPKAPK5","entity_type":"gene"},{"created":"2021-11-30T09:17:41.809826+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9944","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCAM as ready","entity_name":"BCAM","entity_type":"gene"},{"created":"2021-11-30T09:17:41.800635+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9944","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcam has been classified as Red List (Low Evidence).","entity_name":"BCAM","entity_type":"gene"},{"created":"2021-11-30T09:17:29.794095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9944","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCAM as Red List (low evidence)","entity_name":"BCAM","entity_type":"gene"},{"created":"2021-11-30T09:17:29.782900+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9944","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcam has been classified as Red List (Low Evidence).","entity_name":"BCAM","entity_type":"gene"},{"created":"2021-11-30T09:17:11.811080+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9943","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"BCAM","entity_type":"gene"},{"created":"2021-11-29T18:23:53.890237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9943","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDR2 as ready","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:23:53.879403+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9943","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddr2 has been classified as Green List (High Evidence).","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:23:45.098598+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9943","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDR2 were changed from  to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:23:19.681083+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9942","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDR2 were set to ","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:22:54.307974+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9941","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:22:33.406992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9940","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212, 20223752, 30449416; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:18:06.907023+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDR2 as ready","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:18:06.896350+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddr2 has been classified as Green List (High Evidence).","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:17:59.487572+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDR2 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:16:29.137730+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.821","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDR2 were set to ","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:16:12.352096+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.820","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is not really a feature of either condition association with this gene.; to: Severe perinatal onset skeletal dysplasia.","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:15:55.824975+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.820","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DDR2: Changed rating: GREEN; Changed publications: 19110212, 20223752; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-11-29T18:13:53.635949+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCX as ready","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:13:53.624875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcx has been classified as Green List (High Evidence).","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:13:48.880750+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.820","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCX were changed from LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:12:56.728958+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCX were set to ","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:12:35.965301+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported.","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:12:18.261964+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DCX: Changed phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:12:06.805971+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DCX: Changed publications: 20301364, 10915612, 9489699, 12552055; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:11:55.794243+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Contractures are secondary to tone abnormalities, and are not a prominent/key feature.; to: Well established gene-disease association.","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:11:21.563857+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DCX: Changed rating: GREEN","entity_name":"DCX","entity_type":"gene"},{"created":"2021-11-29T18:08:29.002936+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638","entity_name":"PRKG2","entity_type":"gene"}]}