Congenital Disorders of Glycosylation
Gene: PAPSS2
Multiple individuals reported with autosomal recessive brachyolmia or premature pubarche. Serum levels of DHEA sulfate (DHEAS) are often significantly reduced or below detection levels. Although this gene is clearly associated with disease, it does not appear to be involved with glycosylation, and is therefore not within the scope of this panel.Created: 15 Jul 2020, 3:49 a.m. | Last Modified: 15 Jul 2020, 3:49 a.m.
Panel Version: 0.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Publications
Gene: papss2 has been classified as Red List (Low Evidence).
Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Publications for gene: PAPSS2 were set to
Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: papss2 has been classified as Red List (Low Evidence).
gene: PAPSS2 was added gene: PAPSS2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAPSS2 was set to Unknown