TALDO1:Ensemblv115

transaldolase 1
OMIM: 602063, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TALDO1 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Transaldolase deficiency, MIM# 606003
Green TALDO1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert list Expert Review Green Phenotypes Transaldolase deficiency 606003
Green TALDO1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Transaldolase deficiency, 606003 (3)
Green TALDO1 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Transaldolase deficiency, MIM#606003
Green TALDO1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Transaldolase deficiency , MIM#606003
Green TALDO1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Transaldolase deficiency, 606003 Fetal hydrops
Green TALDO1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Transaldolase deficiency MIM#606003