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Fetal anomalies

Gene: PAPSS2

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Short stature is evident at birth.
Created: 24 Jan 2022, 1:16 a.m. | Last Modified: 24 Jan 2022, 1:16 a.m.
Panel Version: 0.2677

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847

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 Green
  • Genomics England PanelApp
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

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: papss2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAPSS2 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAPSS2 was added gene: PAPSS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE