PSTPIP1

proline-serine-threonine phosphatase interacting protein 1
OMIM: 606347, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PSTPIP1 in Vasculitis Level 2: Immunological disorders Version 0.86	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Green PSTPIP1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Green PSTPIP1 in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Green PSTPIP1 in Autoinflammatory Disorders Level 2: Immunological disorders Version 2.3 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Red PSTPIP1 in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.35	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Holoprosencephaly Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)
Green PSTPIP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 Tags treatable immunological