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Skeletal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families reported.
Created: 24 Jan 2022, 1:17 a.m. | Last Modified: 24 Jan 2022, 1:17 a.m.
Panel Version: 0.10743

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
  • NHS GMS
  • 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

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 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

17 Dec 2019, 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 Skeletal dysplasia. Sources: NHS GMS,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