PAPSS2

3'-phosphoadenosine 5'-phosphosulfate synthase 2
OMIM: 603005, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red PAPSS2 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Green PAPSS2 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Green PAPSS2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847
Green PAPSS2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
Green PAPSS2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Green PAPSS2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)