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Prepair 1000+

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Brachyolmia type 4 is characterized by short-trunk stature with normal intelligence and facies. The radiographic features include rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, mildly shortened metacarpals, and mild epiphyseal and metaphyseal changes of the tubular bones. >5 families reported.
Created: 30 Dec 2024, 1:53 a.m. | Last Modified: 30 Dec 2024, 1:53 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Dec 2024, 1:53 a.m.
Last Modified: 30 Dec 2024, 1:53 a.m.
Panel version: 1.978

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAPSS2 were changed from Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3) to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAPSS2 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)