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| Likely inborn error of metabolism - targeted testing not possible v2.114 | DPM2 | Arina Puzriakova Publications for gene: DPM2 were set to 23109149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.113 | DPM2 | Arina Puzriakova Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu 615042; Congenital disorder of glycosylation, type Iu 615042 to Congenital disorder of glycosylation, type Iu, OMIM:615042 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.269 | PEX5 | Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.268 | GTPBP3 | Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.268 | DPM2 | Sarah Leigh Marked gene: DPM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.268 | DPM2 | Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.268 | DPM2 | Sarah Leigh Gene: dpm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM2 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iu 615042 for gene: DPM2 Publications for gene DPM2 were changed from 23109149; 19901254 to 23109149 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM2 |
Ellen McDonagh gene: DPM2 was added gene: DPM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 were set to 23109149; 19901254 Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042 |
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