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Ketotic hypoglycaemia v1.5 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease IV, 232500; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease Type IV; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease to Glycogen storage disease IV, OMIM:232500; Polyglucosan body disease, adult form, OMIM:263570
Ketotic hypoglycaemia v1.4 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Ketotic hypoglycaemia v1.4 G6PC Catherine Snow commented on gene: G6PC
Ketotic hypoglycaemia v1.4 TANGO2 Sarah Leigh Classified gene: TANGO2 as Green List (high evidence)
Ketotic hypoglycaemia v1.4 TANGO2 Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence).
Ketotic hypoglycaemia v1.3 TANGO2 Sarah Leigh gene: TANGO2 was added
gene: TANGO2 was added to Ketotic hypoglycaemia. Sources: Expert Review
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 30245509
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Review for gene: TANGO2 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported in at least 14 unrelated cases.
Gene suggested by Rowenna Roberts, Clinical Scientist.
Sources: Expert Review
Ketotic hypoglycaemia v1.2 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Ketotic hypoglycaemia v1.2 MUT Louise Daugherty commented on gene: MUT