Congenital Disorders of Glycosylation
Gene: PAPSS2

PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000198682
EnsemblGeneIds (GRCh37): ENSG00000198682
OMIM: 603005, Gene2Phenotype
PAPSS2 is in 6 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

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

Created: 15 Jul 2020, 3:49 a.m.
Last Modified: 15 Jul 2020, 3:49 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847

OMIM

603005

Clinvar variants

Variants in PAPSS2

Penetrance

None

Publications

Panels with this gene