Congenital Disorders of Glycosylation

Gene: PAPSS2

Red List (low evidence)

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

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

History Filter Activity

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: papss2 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847

15 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAPSS2 were set to

15 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: papss2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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