Likely inborn error of metabolism - targeted testing not possible
Gene: OCRLGenotype/Phenotype information: PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explain symptom heterogeneity and may help stratify patientsCreated: 4 May 2021, 5:23 p.m. | Last Modified: 4 May 2021, 5:23 p.m.
Panel Version: 2.127
Publications
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.Created: 19 Aug 2019, 1 p.m. | Last Modified: 19 Aug 2019, 1 p.m.
Panel Version: 1.200
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.Created: 19 Aug 2019, 12:59 p.m. | Last Modified: 19 Aug 2019, 12:59 p.m.
Panel Version: 1.200
Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;CataractsCreated: 19 Aug 2019, 12:56 p.m. | Last Modified: 19 Aug 2019, 12:56 p.m.
Panel Version: 1.199
Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;CataractsCreated: 19 Aug 2019, 12:55 p.m. | Last Modified: 19 Aug 2019, 12:55 p.m.
Panel Version: 1.199
Comment on phenotypes: Dent disease 2 300555;Lowe syndrome 309000Created: 19 Aug 2019, 12:49 p.m. | Last Modified: 19 Aug 2019, 12:49 p.m.
Panel Version: 1.196
Publications for gene: OCRL were set to 27604308; 8504307; 9632163; 9632163; 15627218; 27625797
Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2, OMIM:300555; Lowe syndrome, OMIM:309000
Gene: ocrl has been classified as Green List (High Evidence).
Gene: ocrl has been classified as Green List (High Evidence).
Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2 300555; Lowe syndrome 309000
Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Dent disease 2 300555; Lowe syndrome 309000
Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Publications for gene: OCRL were set to 27604308
Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Source NHS GMS was added to OCRL. Source London North GLH was added to OCRL.
Sarah Leigh: Associated with relevant pheno
gene: OCRL was added gene: OCRL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 27604308 Phenotypes for gene: OCRL were set to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts