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| Congenital disorders of glycosylation v2.80 | GMPPA | Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.80 | GMPPA | Sarah Leigh Tag for-review was removed from gene: GMPPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.80 | GMPPA | Sarah Leigh commented on gene: GMPPA: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.79 | GMPPA |
Sarah Leigh Source Expert Review Green was added to GMPPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital disorders of glycosylation v2.24 | GMPPA | Sarah Leigh edited their review of gene: GMPPA: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.; Changed rating: GREEN; Changed phenotypes: Alacrima, achalasia, and mental retardation syndrome OMIM:615510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.24 | GMPPA | Sarah Leigh Tag for-review tag was added to gene: GMPPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.24 | GMPPA | Sarah Leigh Classified gene: GMPPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.24 | GMPPA | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.24 | GMPPA | Sarah Leigh Gene: gmppa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | GMPPA |
Zornitza Stark gene: GMPPA was added gene: GMPPA was added to Congenital disorders of glycosylation. Sources: Expert list Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPA were set to 24035193; 28574218 Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) Review for gene: GMPPA was set to GREEN Added comment: Variants in this gene induce a significant GDP-mannose overload, which is postulated to affect protein glycosylation. PMID: 24035193; - 13 affecteds from 9 families - GDP-mannose levels were shown to be increased in 2 of the affecteds PMID: 28574218; - 2 sisters with achalasia, alacrima, hypohydrosis, apparent intellectual disability, seizures, microcephaly, esotropia, and craniofacial dysmorphism homozygous for c.853+1G>A. - Loss of GMPPA protein leading to increased levels of GDP-mannose were demonstrated Sources: Expert list |
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