PSTPIP1

proline-serine-threonine phosphatase interacting protein 1
OMIM: 606347, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber PSTPIP1 in Familial hidradenitis suppurativa Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 Tags promoter
Green PSTPIP1 in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.33	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Red PSTPIP1 in Generalised pustular psoriasis Level 3: Autoimmune skin disorders Level 2: Dermatological disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Green PSTPIP1 in COVID-19 research Level 2: Viral research Version 1.141	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 Destructive arthritis, inflammatory skin rash, myositis Hyperzincaemia hypercalprotectinaemia Autoinflammatory Disorders
Red PSTPIP1 in Pituitary hormone deficiency Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Green PSTPIP1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 Destructive arthritis, inflammatory skin rash, myositis Hyperzincaemia hypercalprotectinaemia Autoinflammatory Disorders
Green PSTPIP1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Green PSTPIP1 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 1.17 Latest signed off version: v1.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416