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| Likely inborn error of metabolism - targeted testing not possible v2.229 | GALNT2 | Ivone Leong Tag Q2_21_rating was removed from gene: GALNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.229 | GALNT2 | Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.229 | GALNT2 |
Ivone Leong Source Expert Review Green was added to GALNT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v2.165 | GALNT2 |
Arina Puzriakova Tag for-review was removed from gene: GALNT2. Tag Q2_21_rating tag was added to gene: GALNT2. |
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| Likely inborn error of metabolism - targeted testing not possible v2.165 | GALNT2 | Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.165 | GALNT2 |
Arina Puzriakova gene: GALNT2 was added gene: GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature for-review tags were added to gene: GALNT2. Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT2 were set to 27508872; 32293671 Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALNT2 | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 for gene: B3GALNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALNT2 |
Ellen McDonagh gene: B3GALNT2 was added gene: B3GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
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