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| Likely inborn error of metabolism - targeted testing not possible v2.178 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500; Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Polyglucosan body disease, adult form, 263570 to Glycogen storage disease IV, OMIM:232500; Polyglucosan body disease, adult form, OMIM:263570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | GBE1 |
Ivone Leong Source NHS GMS was added to GBE1. Source London North GLH was added to GBE1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GBE1 |
Ellen McDonagh gene: GBE1 was added gene: GBE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 27604308 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500; Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Polyglucosan body disease, adult form, 263570 |
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