{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1416","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1414","results":[{"created":"2021-02-08T15:54:12.785726+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.324","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prepl has been classified as Green List (High Evidence).","entity_name":"PREPL","entity_type":"gene"},{"created":"2021-02-08T15:54:05.152197+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.324","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PREPL as Green List (high evidence)","entity_name":"PREPL","entity_type":"gene"},{"created":"2021-02-08T15:54:05.136690+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.324","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prepl has been classified as Green List (High Evidence).","entity_name":"PREPL","entity_type":"gene"},{"created":"2021-02-08T15:53:55.518562+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.323","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: PREPL: Changed publications: 28726805, 27604308, 24610330","entity_name":"PREPL","entity_type":"gene"},{"created":"2021-02-08T15:53:29.127408+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.323","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PREPL was added\ngene: PREPL was added to Miscellaneous Metabolic Disorders. Sources: Literature\nSV/CNV tags were added to gene: PREPL.\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PREPL were set to 28726805; 27604308\nPhenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport\nReview for gene: PREPL was set to GREEN\nAdded comment: 5 cases with isolated PREPL deficiency, 3 with hypotonia-cystinuria syndrome, and 2 with atypical hypotonia-cystinuria syndrome \nSources: Literature","entity_name":"PREPL","entity_type":"gene"},{"created":"2021-02-08T15:28:02.720969+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.322","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. \nSources: Literature; to: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional homozygote reported in 2015. \r\nSources: Literature","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T15:25:41.829069+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.322","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SLC36A2 as Amber List (moderate evidence)","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T15:25:41.825514+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.322","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Biochemical phenotypes without adverse clinical consequences","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T15:25:41.804744+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.322","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc36a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T15:24:49.951370+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.321","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC36A2 was added\ngene: SLC36A2 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC36A2 were set to 19033659; 26141664; 27604308\nPhenotypes for gene: SLC36A2 were set to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport\nReview for gene: SLC36A2 was set to GREEN\nAdded comment: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. \nSources: Literature","entity_name":"SLC36A2","entity_type":"gene"},{"created":"2021-02-08T15:01:56.472462+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.320","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PYCR1 as ready","entity_name":"PYCR1","entity_type":"gene"},{"created":"2021-02-08T15:01:56.461849+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.320","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2021-02-08T15:01:50.844371+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.320","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PYCR1 as Green List (high evidence)","entity_name":"PYCR1","entity_type":"gene"},{"created":"2021-02-08T15:01:50.831884+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.320","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2021-02-08T15:01:41.931005+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.319","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PYCR1 was added\ngene: PYCR1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYCR1 were set to 19576563; 27604308\nPhenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438; Disorders of ornithine or proline metabolism\nReview for gene: PYCR1 was set to GREEN\ngene: PYCR1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). PYCR1 deficiency causes an inborn error of proline metabolism. \nSources: NHS GMS","entity_name":"PYCR1","entity_type":"gene"},{"created":"2021-02-08T14:49:48.177032+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.318","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GCSH as ready","entity_name":"GCSH","entity_type":"gene"},{"created":"2021-02-08T14:49:48.158814+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.318","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gcsh has been classified as Red List (Low Evidence).","entity_name":"GCSH","entity_type":"gene"},{"created":"2021-02-08T14:49:40.511651+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.318","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GCSH was added\ngene: GCSH was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCSH were set to 1671321; 27604308\nPhenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism\nReview for gene: GCSH was set to RED\nAdded comment: Single case reported \nSources: Literature","entity_name":"GCSH","entity_type":"gene"},{"created":"2021-02-08T14:44:49.325535+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.317","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SARDH as ready","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T14:44:49.315767+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.317","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sardh has been classified as Amber List (Moderate Evidence).","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T14:44:37.200266+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.317","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SARDH as Amber List (moderate evidence)","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T14:44:37.196548+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.317","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Benign metabolic state producing no disease","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T14:44:37.178435+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.317","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sardh has been classified as Amber List (Moderate Evidence).","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T14:44:21.918945+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.316","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SARDH was added\ngene: SARDH was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARDH were set to 22825317; 27604308\nPhenotypes for gene: SARDH were set to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism\nReview for gene: SARDH was set to GREEN\nAdded comment: 4 individuals from 3 consanguineous Israeli Arab families and 3 individuals from 3 French families who had elevated levels of sarcosine in blood and urine. \nSources: Literature","entity_name":"SARDH","entity_type":"gene"},{"created":"2021-02-08T14:31:36.432560+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.315","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSPH as ready","entity_name":"PSPH","entity_type":"gene"},{"created":"2021-02-08T14:31:36.410313+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.315","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psph has been classified as Green List (High Evidence).","entity_name":"PSPH","entity_type":"gene"},{"created":"2021-02-08T14:31:32.876787+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.315","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PSPH as Green List (high evidence)","entity_name":"PSPH","entity_type":"gene"},{"created":"2021-02-08T14:31:32.866758+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.315","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psph has been classified as Green List (High Evidence).","entity_name":"PSPH","entity_type":"gene"},{"created":"2021-02-08T14:31:23.143505+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.314","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSPH was added\ngene: PSPH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSPH were set to 14673469; 25080166; 27604308; 26888760; 25152457\nPhenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism\nReview for gene: PSPH was set to GREEN\nAdded comment: 9 cases in 4 families reported with biallelic variants \nSources: NHS GMS","entity_name":"PSPH","entity_type":"gene"},{"created":"2021-02-08T14:29:17.061761+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSF3 as ready","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T14:29:17.045480+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsf3 has been classified as Amber List (Moderate Evidence).","entity_name":"ACSF3","entity_type":"gene"},{"created":"2021-02-08T14:27:53.722722+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-02-08T14:16:07.058683+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DHTKD1 as ready","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2021-02-08T14:16:07.050989+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dhtkd1 has been classified as Green List (High Evidence).","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2021-02-08T14:16:03.612005+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DHTKD1 as Green List (high evidence)","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2021-02-08T14:16:03.597385+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dhtkd1 has been classified as Green List (High Evidence).","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2021-02-08T14:15:54.437543+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.310","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DHTKD1 was added\ngene: DHTKD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHTKD1 were set to 27604308; 23141293; 29661920; 25860818\nPhenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism\nReview for gene: DHTKD1 was set to GREEN\nAdded comment: >10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities \nSources: NHS GMS","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2021-02-08T13:57:56.012466+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.309","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TDO2 as ready","entity_name":"TDO2","entity_type":"gene"},{"created":"2021-02-08T13:57:56.001370+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.309","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tdo2 has been classified as Red List (Low Evidence).","entity_name":"TDO2","entity_type":"gene"},{"created":"2021-02-08T13:57:26.278320+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.309","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TDO2 was added\ngene: TDO2 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDO2 were set to 28285122; 27604308\nPhenotypes for gene: TDO2 were set to Hypertryptophanemia MIM#600627; Disorders of histidine, tryptophan or lysine metabolism\nReview for gene: TDO2 was set to RED\nAdded comment: Single case reported, biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences \nSources: Literature","entity_name":"TDO2","entity_type":"gene"},{"created":"2021-02-08T13:47:15.890871+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.308","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HAL as ready","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T13:47:15.866504+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.308","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hal has been classified as Amber List (Moderate Evidence).","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T13:45:59.911263+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.308","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HAL as Amber List (moderate evidence)","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T13:45:59.906092+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.308","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Benign clinical condition","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T13:45:59.880277+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.308","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hal has been classified as Amber List (Moderate Evidence).","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T13:45:27.649193+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.307","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HAL was added\ngene: HAL was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: HAL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HAL were set to 27604308; 15806399; 20156889\nPhenotypes for gene: HAL were set to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism\nReview for gene: HAL was set to GREEN\nAdded comment: At least 4 individuals with heterozygous variants and 1 with biallelic variants with histidinemia, but no consistent clinical phenotype. \nSources: Literature","entity_name":"HAL","entity_type":"gene"},{"created":"2021-02-08T13:24:13.638156+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.306","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SUGCT as ready","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T13:24:13.626373+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.306","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sugct has been classified as Amber List (Moderate Evidence).","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T13:24:10.500952+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.306","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SUGCT as Amber List (moderate evidence)","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T13:24:10.490348+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.306","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sugct has been classified as Amber List (Moderate Evidence).","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T13:23:53.804100+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.305","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: OPLAH as ready","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T13:23:53.789635+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.305","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: oplah has been classified as Amber List (Moderate Evidence).","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T13:23:50.828336+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.305","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: OPLAH as Amber List (moderate evidence)","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T13:23:50.818592+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.305","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: oplah has been classified as Amber List (Moderate Evidence).","entity_name":"OPLAH","entity_type":"gene"},{"created":"2021-02-08T13:23:32.985101+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.304","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DCXR as ready","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T13:23:32.977629+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.304","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dcxr has been classified as Amber List (Moderate Evidence).","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T13:23:24.710085+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.304","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DCXR as Amber List (moderate evidence)","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T13:23:24.700168+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.304","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dcxr has been classified as Amber List (Moderate Evidence).","entity_name":"DCXR","entity_type":"gene"},{"created":"2021-02-08T13:23:03.990790+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.303","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CTH as Amber List (moderate evidence)","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T13:23:03.981523+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.303","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cth has been classified as Amber List (Moderate Evidence).","entity_name":"CTH","entity_type":"gene"},{"created":"2021-02-08T13:03:40.439456+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.166","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MSL3 as Green List (high evidence)","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-08T13:03:40.431508+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.166","user_name":"Chirag Patel","item_type":"entity","text":"Gene: msl3 has been classified as Green List (High Evidence).","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-08T13:02:51.061547+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.165","user_name":"Chirag Patel","item_type":"entity","text":"gene: MSL3 was added\ngene: MSL3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, OMIM # 301032\nReview for gene: MSL3 was set to GREEN\ngene: MSL3 was marked as current diagnostic\nAdded comment: Well established ID gene. 2021 paper expands phenotype to include cerebellar vermis hypoplasia as a consistent MRI finding. Reported 25 individuals with syndrome in paper, but 8 patients had MRI reviewed by expert - 8/8 had cerebellar hypoplasia. \nSources: Literature","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-08T12:54:03.271614+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.93","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SUFU as Green List (high evidence)","entity_name":"SUFU","entity_type":"gene"},{"created":"2021-02-08T12:54:03.263853+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.93","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sufu has been classified as Green List (High Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2021-02-08T12:53:31.462153+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.92","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33024317; Phenotypes: congenital ocular motor apraxia (forme fruste of Joubert syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SUFU","entity_type":"gene"},{"created":"2021-02-08T12:22:41.837266+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS1 as ready","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-02-08T12:22:41.829068+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Green List (High Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-02-08T12:22:37.449180+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPS1 as Green List (high evidence)","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-02-08T12:22:37.441721+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Green List (High Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-02-08T12:22:08.136154+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPS1 was added\ngene: HPS1 was added to Lysosomal Storage Disorder. Sources: Expert list\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, MIM#\t203300\nReview for gene: HPS1 was set to GREEN\nAdded comment: Well established gene-disease association. Gene product is involved in biogenesis of lysosomal organelles. \nSources: Expert list","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-02-08T11:39:35.245622+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.302","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: L2HGDH as ready","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2021-02-08T11:39:35.236314+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.302","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: l2hgdh has been classified as Green List (High Evidence).","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2021-02-08T11:39:32.183080+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.302","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: L2HGDH as Green List (high evidence)","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2021-02-08T11:39:32.174558+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.302","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: l2hgdh has been classified as Green List (High Evidence).","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2021-02-08T11:39:22.403880+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.301","user_name":"Bryony Thompson","item_type":"entity","text":"gene: L2HGDH was added\ngene: L2HGDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: L2HGDH were set to 27604308; 15385440\nPhenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792; organic acidurias\nReview for gene: L2HGDH was set to GREEN\ngene: L2HGDH was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). L-2-hydroxyglutaric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an organic aciduria. \nSources: NHS GMS","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2021-02-08T11:29:21.016730+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.300","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SUGCT as Red List (low evidence)","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T11:29:21.013230+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.300","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Likely benign condition","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T11:29:20.994770+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.300","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sugct has been classified as Red List (Low Evidence).","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T11:28:49.657260+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.299","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SUGCT was added\ngene: SUGCT was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUGCT were set to 28766179; 18926513; 33483254; 32779420; 27604308\nPhenotypes for gene: SUGCT were set to Glutaric aciduria III MIM#231690; Organic acidurias\nReview for gene: SUGCT was set to GREEN\nAdded comment: At least 10 cases reported with glutaric aciduria 3. There is insufficient evidence to define any specific clinical phenotype as attributable to GA3. GA3 is a naturally occurring biochemical trait in mouse models. \nSources: Literature","entity_name":"SUGCT","entity_type":"gene"},{"created":"2021-02-08T10:42:54.147487+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.297","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TTPA as ready","entity_name":"TTPA","entity_type":"gene"},{"created":"2021-02-08T10:42:54.129611+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.297","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ttpa has been classified as Green List (High Evidence).","entity_name":"TTPA","entity_type":"gene"},{"created":"2021-02-08T10:42:50.783089+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.297","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TTPA as Green List (high evidence)","entity_name":"TTPA","entity_type":"gene"},{"created":"2021-02-08T10:42:50.772814+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.297","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ttpa has been classified as Green List (High Evidence).","entity_name":"TTPA","entity_type":"gene"},{"created":"2021-02-08T10:42:42.923472+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.296","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TTPA was added\ngene: TTPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTPA were set to 27604308; 7719340\nPhenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency MIM#277460; disorders of vitamins and cofactors\nReview for gene: TTPA was set to GREEN\ngene: TTPA was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Ataxia with vitamin E deficiency (AVED) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism. \nSources: NHS GMS","entity_name":"TTPA","entity_type":"gene"},{"created":"2021-02-08T10:21:56.510563+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.295","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PEPD as ready","entity_name":"PEPD","entity_type":"gene"},{"created":"2021-02-08T10:21:56.502505+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.295","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pepd has been classified as Green List (High Evidence).","entity_name":"PEPD","entity_type":"gene"},{"created":"2021-02-08T10:21:36.231319+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.295","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PEPD as Green List (high evidence)","entity_name":"PEPD","entity_type":"gene"},{"created":"2021-02-08T10:21:36.223474+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.295","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pepd has been classified as Green List (High Evidence).","entity_name":"PEPD","entity_type":"gene"},{"created":"2021-02-08T10:21:26.665977+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.294","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PEPD was added\ngene: PEPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEPD were set to 27604308; 2365824\nPhenotypes for gene: PEPD were set to Prolidase deficiency MIM#170100; disorders of peptide metabolism\nReview for gene: PEPD was set to GREEN\ngene: PEPD was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Prolidase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of peptide metabolism. \nSources: NHS GMS","entity_name":"PEPD","entity_type":"gene"},{"created":"2021-02-08T10:14:44.965347+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.293","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PCK1 as ready","entity_name":"PCK1","entity_type":"gene"},{"created":"2021-02-08T10:14:44.954448+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.293","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pck1 has been classified as Green List (High Evidence).","entity_name":"PCK1","entity_type":"gene"},{"created":"2021-02-08T10:14:42.089608+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.293","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PCK1 as Green List (high evidence)","entity_name":"PCK1","entity_type":"gene"},{"created":"2021-02-08T10:14:42.081043+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.293","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pck1 has been classified as Green List (High Evidence).","entity_name":"PCK1","entity_type":"gene"},{"created":"2021-02-08T10:14:33.326597+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.292","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PCK1 was added\ngene: PCK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCK1 were set to 24863970; 28216384; 26971250; 27604308\nPhenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis\nReview for gene: PCK1 was set to GREEN\nAdded comment: 6 cases from 4 families with biallelic variants and supporting biochemical results and in vitro assays \nSources: NHS GMS","entity_name":"PCK1","entity_type":"gene"},{"created":"2021-02-08T10:06:00.686734+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.291","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PAH as ready","entity_name":"PAH","entity_type":"gene"},{"created":"2021-02-08T10:06:00.678697+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.291","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pah has been classified as Green List (High Evidence).","entity_name":"PAH","entity_type":"gene"},{"created":"2021-02-08T10:05:58.073893+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.291","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PAH as Green List (high evidence)","entity_name":"PAH","entity_type":"gene"},{"created":"2021-02-08T10:05:58.063671+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.291","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pah has been classified as Green List (High Evidence).","entity_name":"PAH","entity_type":"gene"},{"created":"2021-02-08T10:05:47.098651+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.290","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PAH was added\ngene: PAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAH were set to 27604308; 3008810\nPhenotypes for gene: PAH were set to Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism\nReview for gene: PAH was set to GREEN\ngene: PAH was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Phenylketonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of phenylalanine metabolism. \nSources: NHS GMS","entity_name":"PAH","entity_type":"gene"}]}