{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=705","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=703","results":[{"created":"2022-11-02T17:55:03.916184+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.728","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CLN6.","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-11-02T17:54:38.061463+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.728","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CLN5.","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-11-02T17:53:55.902368+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.728","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CLN3.","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-11-02T17:52:21.401436+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.728","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ADAR: To be discussed further with neurology.","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-11-02T17:50:06.018825+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.728","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: UROD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24175354; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T17:45:33.848075+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.728","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VHL were set to 20301636; 33945366; 34613603","entity_name":"VHL","entity_type":"gene"},{"created":"2022-11-02T17:45:19.757874+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.727","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: VHL.\nTag treatable tag was added to gene: VHL.","entity_name":"VHL","entity_type":"gene"},{"created":"2022-11-02T17:45:07.211647+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.727","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VHL: Changed publications: 28620007","entity_name":"VHL","entity_type":"gene"},{"created":"2022-11-02T17:44:51.197860+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.727","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VHL","entity_type":"gene"},{"created":"2022-11-02T17:37:42.489161+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.727","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UROD as ready","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T17:37:42.479713+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.727","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: urod has been classified as Green List (High Evidence).","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T17:37:38.070633+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.727","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UROD were changed from Porphyria, hepatoerythropoietic to Porphyria, hepatoerythropoietic MIM#176100","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T17:37:19.895508+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.726","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UROD were set to ","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T17:36:44.029442+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.725","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: UROD.","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T17:35:16.235231+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.725","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T17:31:03.132965+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.725","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SI.","entity_name":"SI","entity_type":"gene"},{"created":"2022-11-02T17:29:00.723171+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.725","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SFTPC as Red List (low evidence)","entity_name":"SFTPC","entity_type":"gene"},{"created":"2022-11-02T17:29:00.713689+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.725","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpc has been classified as Red List (Low Evidence).","entity_name":"SFTPC","entity_type":"gene"},{"created":"2022-11-02T17:28:17.764712+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.724","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SFTPC.","entity_name":"SFTPC","entity_type":"gene"},{"created":"2022-11-02T17:24:05.604153+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.724","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN3A as Red List (low evidence)","entity_name":"SCN3A","entity_type":"gene"},{"created":"2022-11-02T17:24:05.595596+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.724","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn3a has been classified as Red List (Low Evidence).","entity_name":"SCN3A","entity_type":"gene"},{"created":"2022-11-02T17:23:56.591348+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.723","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SCN3A.\nTag treatable was removed from gene: SCN3A.","entity_name":"SCN3A","entity_type":"gene"},{"created":"2022-11-02T17:23:46.306575+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.723","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN3A","entity_type":"gene"},{"created":"2022-11-02T17:22:24.784185+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.723","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN2A as Red List (low evidence)","entity_name":"SCN2A","entity_type":"gene"},{"created":"2022-11-02T17:22:24.770722+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.723","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn2a has been classified as Red List (Low Evidence).","entity_name":"SCN2A","entity_type":"gene"},{"created":"2022-11-02T17:22:15.562598+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.722","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SCN2A.\nTag treatable was removed from gene: SCN2A.","entity_name":"SCN2A","entity_type":"gene"},{"created":"2022-11-02T17:22:04.123055+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.722","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN2A","entity_type":"gene"},{"created":"2022-11-02T17:20:30.964503+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.722","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN1A as Red List (low evidence)","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-11-02T17:20:30.953918+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.722","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn1a has been classified as Red List (Low Evidence).","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-11-02T17:20:21.024806+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SCN1A.\nTag treatable was removed from gene: SCN1A.","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-11-02T17:20:07.367244+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN1A","entity_type":"gene"},{"created":"2022-11-02T17:15:46.046589+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: PCBD1.","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-11-02T17:14:51.836333+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nPresents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.\r\n\r\nFor review; to: Well established gene-disease association.\r\n\r\nPresents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.\r\n","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-11-02T17:10:23.322962+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: OTOGL.","entity_name":"OTOGL","entity_type":"gene"},{"created":"2022-11-02T17:10:14.757055+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"OTOGL","entity_type":"gene"},{"created":"2022-11-02T17:05:59.769556+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: NPC1.","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-11-02T17:05:50.842928+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: For review: check treatment available locally; to: For review: check treatment available locally. Done.","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-11-02T17:05:01.773726+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?; to: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?\r\n\r\nPanel review: screen for bi-allelic disease only.","entity_name":"MYO6","entity_type":"gene"},{"created":"2022-11-02T17:04:32.761984+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO6 were changed from Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821 to Deafness, autosomal recessive 37, MIM# 607821","entity_name":"MYO6","entity_type":"gene"},{"created":"2022-11-02T17:04:14.112025+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.720","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYO6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO6","entity_type":"gene"},{"created":"2022-11-02T13:31:07.666363+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T13:30:46.008504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.431","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SFTPA1 as Green List (high evidence)","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T13:30:46.000432+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa1 has been classified as Green List (High Evidence).","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T13:30:23.831221+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.430","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SFTPA1: Added comment: Additional 3 families reported with mono-allelic variants.; Changed rating: GREEN; Changed publications: 31601679, 30854216, 28869238, 26792177, 32855221","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T13:29:53.133544+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T13:29:18.956440+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SFTPA1 as Green List (high evidence)","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T13:29:18.947987+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa1 has been classified as Green List (High Evidence).","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T13:28:47.464486+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.163","user_name":"Krithika Murali","item_type":"entity","text":"gene: GNPTAB was added\ngene: GNPTAB was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNPTAB were set to 20301728\nPhenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta - MIM#252500\nReview for gene: GNPTAB was set to GREEN\nAdded comment: ML II is evident at birth - small for gestational age, deformed long bones and other skeletal anomalies. \nSources: Literature","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2022-11-02T13:23:09.982986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.430","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36097642, 35427807; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2022-11-02T13:20:28.191749+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.226","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36097642, 35427807; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2022-11-02T13:19:51.406484+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.163","user_name":"Krithika Murali","item_type":"entity","text":"gene: GNPNAT1 was added\ngene: GNPNAT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345\nPhenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598\nReview for gene: GNPNAT1 was set to AMBER\nAdded comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped. \nSources: Literature","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2022-11-02T12:23:46.449857+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.45","user_name":"Tiong Tan","item_type":"entity","text":"reviewed gene: SFTPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32855221; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SFTPA1","entity_type":"gene"},{"created":"2022-11-02T11:31:50.337275+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"David Amor","item_type":"entity","text":"reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia, OMIM 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T11:17:56.683160+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"David Amor","item_type":"entity","text":"reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 1, OMIM 193500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX3","entity_type":"gene"},{"created":"2022-11-02T11:13:43.053004+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"David Amor","item_type":"entity","text":"reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1  (aka Hallervorden-Spatz disease), OMIM 234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-11-02T11:07:05.156465+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"David Amor","item_type":"entity","text":"reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group N, OMIM 610832 (AR), Breast cancer, susceptibility to (OMIM 114480) (AD); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2022-11-02T10:54:15.825377+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"David Amor","item_type":"entity","text":"reviewed gene: PAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 300558, Intellectual developmental disorder, X-linked 30; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PAK3","entity_type":"gene"},{"created":"2022-11-02T10:50:52.773983+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"David Amor","item_type":"entity","text":"reviewed gene: P2RY12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 609821, Bleeding disorder, platelet-type, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"P2RY12","entity_type":"gene"},{"created":"2022-11-01T23:07:14.706261+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa with night blindness, cataracts, polyneuropathy including sensory disturbances, cerebellar ataxia, anosmia, progressive hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHYH","entity_type":"gene"},{"created":"2022-11-01T23:00:04.438516+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246, https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: hepatomegaly, hypotonia, growth retardation, hypoglycaemia, fasting ketosis, cirrhosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHKG2","entity_type":"gene"},{"created":"2022-11-01T22:50:58.153274+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: marked hepatomegaly, hypoglycaemia, short stature, fasting ketosis, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHKB","entity_type":"gene"},{"created":"2022-11-01T22:39:55.796630+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246; Phenotypes: hepatomegaly, short stature, liver dysfunction, hypoglycaemia, hyperuricaemia, hyperlipidemia, fasting ketosis, mild motor delay; 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":"PHKA2","entity_type":"gene"},{"created":"2022-11-01T22:26:40.765696+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: growth retardation, congenital microcephaly, hypogonadism, hypertonia, severe ID, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHGDH","entity_type":"gene"},{"created":"2022-11-01T22:13:34.640765+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32681750; Phenotypes: cleft lip, bifid uvula, hepatopathy, intermittent hypoglycemia, short stature, exercise intolerance, increased serum creatine kinase, rhabdomyolysis, dilated cardiomyopathy, hypogonadotropic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-11-01T22:01:44.246960+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PFKM: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 7550225; Phenotypes: rhabdomyolysis, myopathy, exercise intolerance, gout, haemolysis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PFKM","entity_type":"gene"},{"created":"2022-11-01T17:58:29.452628+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX7","entity_type":"gene"},{"created":"2022-11-01T17:57:26.029184+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-11-01T17:56:42.064414+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX5","entity_type":"gene"},{"created":"2022-11-01T17:55:09.874043+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-11-01T17:54:17.623633+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX26","entity_type":"gene"},{"created":"2022-11-01T17:52:05.890002+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX2","entity_type":"gene"},{"created":"2022-11-01T17:50:39.294799+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX13","entity_type":"gene"},{"created":"2022-11-01T17:49:13.614554+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX12","entity_type":"gene"},{"created":"2022-11-01T17:41:15.700507+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX10","entity_type":"gene"},{"created":"2022-11-01T17:39:38.686213+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX1","entity_type":"gene"},{"created":"2022-11-01T17:06:21.316157+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20002125, PMID: 33092611; Phenotypes: ID, hypotonia, lactic acidosis, seizures, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-11-01T17:00:08.212671+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: lactic acidosis, porencephaly, ID, seizures, dystonia; 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":"PDHA1","entity_type":"gene"},{"created":"2022-11-01T16:53:18.091992+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301764; Phenotypes: lactic acidosis, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PC","entity_type":"gene"},{"created":"2022-11-01T16:46:32.568988+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX8","entity_type":"gene"},{"created":"2022-11-01T16:41:18.342199+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594, PMID: 20652411; Phenotypes: ketoacidosis, hypoglycaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OXCT1","entity_type":"gene"},{"created":"2022-11-01T16:34:06.425192+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperammonaemia, encephalopathy, liver failure; 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":"OTC","entity_type":"gene"},{"created":"2022-11-01T16:23:20.125158+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: cholestatic jaundice in infancy, gaze palsy, ID, dystonia, progressive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-11-01T16:21:03.777967+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: hepatosplenomegaly, cholestatic jaundice, gaze palsy, ID, dystonia, dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-11-01T16:00:52.930731+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, PMID: 19101627; Phenotypes: hyperinsulinism, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2022-11-01T15:55:39.935711+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28781843, PMID: 20549361; Phenotypes: hypoglycaemia, metabolic acidosis, cardiomyopathy, ID, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLYCD","entity_type":"gene"},{"created":"2022-11-01T14:48:16.243679+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31222755, PMID: 31241255; Phenotypes: ID, coarse facial features, deafness, dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2022-11-01T13:52:23.908579+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.483","user_name":"Suliman Khan","item_type":"entity","text":"changed review comment from: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects. \nSources: Literature; to: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects. \r\nSources: Literature","entity_name":"MYCBP2","entity_type":"gene"},{"created":"2022-11-01T13:50:47.863928+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.483","user_name":"Suliman Khan","item_type":"entity","text":"gene: MYCBP2 was added\ngene: MYCBP2 was added to Callosome. Sources: Literature\nMode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYCBP2 were set to PMID: 36200388\nPhenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects\nPenetrance for gene: MYCBP2 were set to Complete\nReview for gene: MYCBP2 was set to GREEN\nAdded comment: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects. \nSources: Literature","entity_name":"MYCBP2","entity_type":"gene"},{"created":"2022-10-31T19:44:31.870709+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC17A5 as ready","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-10-31T19:44:31.861904+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc17a5 has been classified as Red List (Low Evidence).","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-10-31T19:44:27.867232+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.719","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile to Sialic acid storage disorder, infantile, MIM# 269920","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-10-31T19:44:20.293389+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.718","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC17A5 as Red List (low evidence)","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-10-31T19:44:20.278138+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.718","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc17a5 has been classified as Red List (Low Evidence).","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-10-31T19:44:07.108356+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.717","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC17A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-10-31T19:41:15.736269+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.717","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC16A2 as ready","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-10-31T19:41:15.726780+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.717","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc16a2 has been classified as Red List (Low Evidence).","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-10-31T19:41:08.154620+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.717","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-10-31T19:40:57.987691+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.716","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC16A2 as Red List (low evidence)","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-10-31T19:40:57.982784+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.716","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Not eligible now but have to check back on trial later","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-10-31T19:40:57.953464+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.716","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc16a2 has been classified as Red List (Low Evidence).","entity_name":"SLC16A2","entity_type":"gene"}]}